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Biomedical subjects

K H Schulpis

Publications and source records attributed to K H Schulpis.

At least 19 recordsLinked to original sources
PubMed2007

Serum paraoxonase/arylesterase activities in phenylketonuric patients on diet.

AIM: To compare serum paraoxonase/arylesterase (PON-aryl) activities in phenylketonuric (PKU) patients with high and low phenylalanine (Phe) blood concentration. PATIENTS AND METHODS: Seventeen poorly controlled PKU children (off diet) underwent clinical and laboratory examinations before and after 30 days adhering to their special diet (on diet), whereas controls (N=24) were examined once. Lipid, lipoprotein levels and paraoxonase (PON 1) activities were measured with the Bayer Advia 1650 Clinical Chemistry System. Apolipoprotein AI (Apo AI) levels were determined by the Dade Behring BN ProSpec nephelometer, whereas total antioxidant capacity (TAC), PON-aryl and Phe levels were measured spectrophotometrically. RESULTS: Phe significantly differed among the groups. Lipids and lipoproteins, except high-density-lipoprotein-cholesterol (HDL-C) and Apo AI, were higher when off diet than those on diet. HDL-C and Apo AI were similar in patients and controls. TAC (0.99+/-0.19 mmol/l) was significantly lower when the patients were off diet than when they adhered to diet and controls (1.71+/-0.20 and 1.81+/-0.20 mmol/l P<0.001 respectively). PON 1 and PON-aryl activities (68+/-2 U/min/ml, 88+/-26 KU (min/ml) in children with high Phe were reduced as compared with those with low blood Phe levels (152+/-41 U/min/ml, 107+/-23 KU/min/ml P<0.001) and controls (146+/-43 U/min/ml, 109+/-41 KU/min/ml P<0.001). The enzyme activities positively correlated with HDL-C and Apo AI when PKU patients were on diet and controls as well as with TAC in all the groups, whereas negatively correlated with Phe levels. CONCLUSIONS: PON-aryl activities are strongly related to the dietary control of PKU patients.

Analysis of Variance↗
PubMed2006

The effect of MTHFR(C677T) genotype on plasma homocysteine concentrations in healthy children is influenced by gender.

OBJECTIVE: To explore the influence of gender, together with folate status, on the relation between the common methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and plasma total homocysteine (tHcy) concentrations in healthy children. DESIGN: Cross-sectional study by face-to-face interview. SETTING AND SUBJECTS: A total of 186 sixth-grade students participated from twelve randomly selected primary schools in Volos, Greece. METHODS: Fasting tHcy, folate, and vitamin B(12) were measured in plasma. The MTHFR genotypes were determined. Anthropometric and dietary intake data by 24-h recall were collected. RESULTS: Geometric means for plasma tHcy, plasma folate and energy-adjusted dietary folate did not differ between females and males. The homozygous mutant TT genotype was associated with higher tHcy only in children with lower plasma folate concentrations (<19.9 nmol/l, P = 0.012). As a significant gender interaction was observed (P = 0.050), we stratified the lower plasma folate group by gender and found that the association between the genotype and tHcy was restricted to males (P = 0.026). Similar results were obtained when folate status was based on estimated dietary folate. Specifically, only TT males that reported lower dietary folate consumption (<37 microg/MJ/day) had tHcy that was significantly higher than tHcy levels of C-allele carriers (P = 0.001). CONCLUSIONS: Under conditions of lower folate status (as estimated by either plasma concentration or reported dietary consumption), gender modifies the association of the MTHFR(C677T) polymorphism with tHcy concentrations in healthy children. SPONSORSHIP: Kellog Europe.

Analysis of Variance↗
PubMed2006

The effect of L-cysteine and glutathione on inhibition of Na+, K+-ATPase activity by aspartame metabolites in human erythrocyte membrane.

BACKGROUND: Reports have implicated Aspartame (N-L-a-aspartyl-L-phenylalanine methyl ester, ASP) in neurological problems. AIM: To evaluate Na(+), K(+)-ATPase activities in human erythrocyte membranes after incubation with the ASP metabolites, phenylalanine (Phe), methanol (MeOH) and aspartic acid (Asp). METHODS: Erythrocyte membranes were obtained from 12 healthy individuals and were incubated at 37 degrees C for 1 h with the sum or each of the ASP metabolites separately, which are commonly measured in blood after ASP ingestion. Na(+), K(+)-ATPase and Mg(2+)-ATPase activities were measured spectrophotometrically. RESULTS: Membrane Mg(2+)-ATPase activity was not altered. The sum of ASP metabolite concentrations corresponding to 34, 150 or 200 mg/kg of the sweetener ingestion resulted in an inhibition of the membrane Na(+), K(+)-ATPase by -30, -40, -48%, respectively. MeOH concentrations of 0.14, 0.60 or 0.80 mM decreased the enzyme activity by -25, -38, -43%, respectively. Asp concentrations of 2.80, 7.60 or 10.0 mM inhibited membrane Na(+), K(+)-ATPase by -26, -40, -46%, respectively. Phe concentrations of 0.14, 0.35 or 0.50 mM reduced the enzyme activity by -24, -44, -48%, respectively. Preincubation with L-cysteine or reduced glutathione (GSH) completely or partially restored the inhibited membrane Na(+), K(+)-ATPase activity by high or toxic ASP metabolite concentrations. CONCLUSIONS: Low concentrations of ASP metabolites had no effect on Na(+), K(+)-ATPase activity. High or abuse concentrations of ASP hydrolysis products significantly decreased the membrane enzyme activity, which was completely or partially prevented by L-cysteine or reduced GSH.

Adult↗
PubMed2006

Effects of mode of delivery on maternal-neonatal plasma antioxidant status and on protein S100B serum concentrations.

OBJECTIVE: To investigate the effect of the mode of labour and delivery on total antioxidant status (TAS) and on the protein S100B serum concentrations in mothers and their newborns. MATERIAL AND METHODS: Sixty women with normal pregnancies were divided into three groups: Group A (n = 20) with normal labour and vaginal delivery (VG), group B (n = 18) with prolonged labour+VG and group C (n = 22) with scheduled caesarean section (CS). Blood was obtained at the beginning of the labour process and immediately after delivery (pre- and post-delivery) as well as from the umbilical cord (CB). TAS and creatine kinase (CK) were measured using commercial kits. Serum S100B levels were evaluated with the electrochemiluminescence immunoassay "ECLIA" on the ROCHE ELECSYS 2010 immunoassay analyser. RESULTS: Post-delivery, TAS levels were significantly decreased in group A and especially in group B. S100B levels were increased in group B (0.0712+/-0.02 microg/L) as compared with those of group A (0.0567+/-0.03 microg/L, p<0.01) and group C (0.038+/-0.03 microg/L, p<0.01), the levels in group C remaining practically unaltered (pre- versus post-delivery). In the newborns, S100B levels were almost 2-fold higher in group B (0.67+/-0.18 microg/L) than those in group A (0.40+/-0.05 microg/L p<0.001) and group C (0.31+/-0.04 microg/L p<0.001). A negative correlation was found between TAS and S100B protein (r = -0.61, p<0.001), the latter positively correlated to CK (r = 0.48, p<0.01). CONCLUSIONS: The increased S100B serum levels in the mothers of group B, post-delivery, may have been due to the long-lasting, oxidative and/or psychogenic stress. The observed remarkably high levels of S100B in the group B newborns may have been due to compressive conditions on the foetus brain during this mode of delivery.

Adult↗
PubMed2004

Maternal--neonatal serum selenium and copper levels in Greeks and Albanians.

AIM: To evaluate selenium (Se) and copper (Cu) concentrations in Greek and Albanian immigrant mothers and in the cord blood of their newborns. SUBJECTS AND METHODS: From 1118 Greek and 820 Albanian mothers and from the cord blood of their neonates blood was obtained for Se and Cu measurement. Se and Cu concentrations were determined in sera with graphite furnace atomic absorption spectroscopy (GFAAAS) and atomic absorption spectrometry, respectively. In all, 30 days' nutrient intakes were evaluated in both groups. RESULTS: Animal protein, Se and Cu intakes were poor in the Albanians vs the Greeks (P < 0.001). Se concentrations in the Greek mothers (68.3 +/- 8.5 microg/l) and in their newborns (37.02 +/- 8.9 microg/l) were found higher as compared with those in Albanian mothers (37.4 +/- 9.9 microg/l) and in their newborns (34.3 +/- 9.1 microg/l) (P < 0.001). Cu levels were also found higher (P < 0.001) in the Greek mothers (1687 +/- 353 microg/l) and in their neonates (449 +/- 87 microg/l) compared with those in the Albanian mothers (959 +/- 318 microg/l) and in their newborns (229 +/- 67 microg/l). Additionally, 31.5% of neonates born to Albanian women with Se concentrations less than 28 microg/l had higher Se levels (P < 0.01) than their mothers. CONCLUSIONS: The low Se and Cu levels evaluated in the Albanian mothers and their newborns could be related to their poor animal protein intake which could be the consequence of their low socioeconomic status. As an effective preventive measure, accurate dietetic strategies to assess the requirements of pregnant immigrant women for trace elements may be planned in Greece.

Adult↗
PubMed2004

Maternal-neonatal retinol and alpha-tocopherol serum concentrations in Greeks and Albanians.

BACKGROUND: Vitamin A and E are required in physiological processes such as pregnancy and growth. AIM: To evaluate retinol and alpha-tocopherol serum levels in Greek and Albanian mothers and in their newborns. METHODS: Data concerned 1125 Greek and 898 Albanian mothers along with their newborns. Immediately after delivery, blood from the umbilical cord and from the mothers was collected into light-protected tubes. Retinol and alpha-tocopherol serum levels were measured with a reversed-phase HPLC method. A 60-d dietetic diary was kept by each woman during the last 2 mo of pregnancy. RESULTS: Retinol (1.3 +/- 0.1 micromol/l) and alpha-tocopherol (32.9 +/- 9.5 micromol/l) levels were estimated to be normal in Greek mothers and in most of their offspring (0.9 +/- 0.1 and 18.5 +/- 3.4 micromol/l, respectively). In contrast, in Albanian mothers, retinol concentration was found to be low (0.6 +/- 0.1 micromol/l), and in 1/3 significantly low (<0.45 micromol/l). Consequently, the vitamin was evaluated to be very low in their newborns (0.4 +/- 0.1 micromol/l), and in 1/2 extremely low. However, in 12% of the Albanian cord blood samples, retinol level was determined to be higher as compared with that of their mothers. alpha-Tocopherol was evaluated to be normal in most of the immigrant mothers (20.0 +/- 8.8 micromol/l) and low (<7.5 micromol/l) in 15% of their newborns. Vitamin A intake was found to be extremely low and vitamin E low (p < 0.05) in the Albanians. CONCLUSIONS: (a) The decreased vitamin A and vitamin E intake, and their low blood status in the Albanian mothers and in their newborns, could be due to their low socio-economic and nutritional status. (b) Immigrant Albanians, during their pregnancy, and their newborns should be "followed up", being at risk of developing symptoms from the very low levels of these lipid-soluble vitamins.

Adolescent↗
PubMed2003

Effect of diet on plasma total antioxidant status in phenylketonuric patients.

BACKGROUND: Phenylketonuria (PKU), an inborn error of phenylalanine (Phe) metabolism, is treated with a low Phe lifelong diet, which is a vegetarian and contains many antioxidants. AIM: The aim of this study was to evaluate the effect of diet on plasma total antioxidant status in our PKU patients. METHODS, RESULTS: Twenty-two PKU patients on strict diet (group A), 24 PKU patients who did not accurately follow their dietary control (group B) and 40 healthy children (controls) of comparable age took part in this study. Nutrients, as well as blood levels of lipids, vitamin C, beta-carotene and alpha-tocopherol were evaluated in all groups. Vitamin C intake and its blood levels did not differ between the groups. However, the intake of beta-carotene, alpha-tocopherol (2211+/-116, 14+/-1.0 mg/24 h) and their blood levels (0.7+/-0.09, 34+/-0.9 micro mol/l) in group A were statistically significantly higher (P<0.001) as compared with those of group B (1352+/-118, 10+/-1.0 mg/24 h and 0.49+/-0.08, 22+/-0.6 micromol/l) and controls (1290+/-120, 9.0+/-0.9 mg/24 h and 0.40+/-0.09, 24+/-1.6 micromol/l). Lipid intakes and their blood levels were lower in patients on the strict diet. Plasma total antioxidant status was higher in the same group of patients (group A). Additionally, positive correlations were found between the antioxidant vitamin blood levels and the plasma total antioxidant status in the groups, especially in the group A. PKU patients of group A showed significantly higher antioxidant status (1.6+/-0.2 mmol/l) as compared with those of group B (1.0+/-0.19 mmol/l; P<0.001) and controls (1.01+/-0.2 mmol/l). CONCLUSIONS: The high plasma antioxidant status in patients with PKU, especially in those with a good compliance with their diet, is possibly due to the amounts of antioxidants which are present in their special low Phe vegetarian diet.

Analysis of Variance↗
PubMed2002

Homocysteine and other vascular risk factors in patients with phenylketonuria on a diet.

UNLABELLED: The aim of this study was to investigate the known risk factors, such as lipids, homocysteine and endothelin, for the development of coronary artery disease (CAD) in phenylketonuria (PKU) patients, depending on their diet. The PKU patients (n = 74) were divided into two groups. Group A (n = 34; mean age 6.78 +/- 1.5 y) adhered strictly to a diet and group B (n = 40; mean age 8.0 +/- 3.2 y) did not comply with the diet. The control group comprised 50 healthy non-PKU children. All groups were evaluated for blood levels of homocysteine and vitamin B6 by high-performance liquid chromatography, vitamin B12 and folate in serum by a radioassay, lipids by a routine method, and lipoprotein(a) and endothelin-1 with an immunoassay. Homocysteine levels (28.65 +/- 3.3 micromol l(-1)) were increased in group A compared with group B (6.86 +/- 1.6 micromol l(-1)) and the controls (6.9 +/- 2.0 micromol l(-1)) (p < 0.001). Vitamin B6 (10.7 +/- 10.9 nmol l(-1)), vitamin B12 (98.5 +/- 22.3 pmol l(-1)), folate (2.35 +/- 1.3 nmol l(-1)) and lipids were decreased in group A. The other vascular risk factors, which were not dependent on diet [lipoprotein(a) and endothelin-1], did not differ among the three groups. CONCLUSION: PKU patients on a strict diet had low vitamin B6, vitamin B12 and folate levels resulting in moderate hyperhomocysteinaemia. The evaluation of these vitamins at short intervals and their supplementation could be an early measure in the prevention of CAD.

Child↗
PubMed2001

Elevated plasma homocysteine levels in patients on isotretinoin therapy for cystic acne.

BACKGROUND: The use of Isotretinoin (Iso) for cystic acne (CA) therapy includes marked side-effects such as dyslipidemia, increased liver enzymes, and reduction of biotinidase activity. Moreover, Homocysteine (Hcy), an amino acid, is metabolized in the liver requiring folate, vitamin B6, vitamin B12, and the activity of enzymes, i.e. cystathionine-beta-synthase. Increased blood levels of Hcy are associated with premature occlusive vascular disease. OBJECTIVE: The aim of this study was the evaluation of Hcy levels and the responsible vitamins for its metabolism in patients with CA on Iso treatment. METHODS AND RESULTS: Twenty-eight patients with CA were submitted to laboratory examinations before (Value 1) and after (Value 2) 45 days on Iso (0.5 mg/kg/24 h) therapy. Blood levels of Hcy and vitamin B6 were evaluated by HPLC methods, and folate and vitamin B12 using a commercial Kit. Hcy levels (Value 1 = 7.86 +/- 1.6 micromol/L; Value 2 = 13.65 +/- 3.3 micromol/L; P < 0.001) were statistically significantly increased in patients on treatment. Vitamins were unaltered, and lipids and liver enzymes increased. Significant correlation between Hcy levels, vitamins, and liver enzymes was found. Methionine loading tests performed in nine patient-volunteers showed an abnormal response post-treatment. CONCLUSIONS: It is suggested that the elevated Hcy levels in patients after 45 days on Iso therapy could be due either to the 'inhibition' of cystathionine-beta-synthase by the drug and/or their liver dysfunction. Daily vitamin supplementation along with frequent evaluations of Hcy blood levels are recommended for the prevention of a premature occlusive vascular disease.

Acne Vulgaris↗
PubMed2001

Low serum biotinidase activity in children with valproic acid monotherapy.

PURPOSE: Valproic acid (VPA) is an effective antiepileptic drug (AED), which is associated with dose-related adverse reactions such as skin rash, hair loss (alopecia), etc. Profound as well as partial biotinidase deficiency causes dermatologic manifestations similar these. Therefore, it was of interest to evaluate serum biotinidase activity in patients receiving VPA monotherapy. METHODS: Seventy-five patients with seizures, mean age, 8.6 years (+/-1.9 years) were divided into three groups. Group A (n = 25) was treated with VPA 28.7 +/- 8.5 mg/kg/24 h, group B (n = 25) with 41.6 +/- 4.9 mg/kg/24 h, and group C with 54.5 +/- 5.8 mg/kg/24 h. Their "trough" VPA serum levels were 40.9 +/- 13.2, 86.25 +/- 11.5, and 137 +/- 14.5 microg/ml, respectively. Fifty healthy children were the controls. Patients and controls underwent clinical and laboratory evaluations including liver function data, complete blood counts, NH3, and so on, after 45 days of VPA treatment. Biotinidase serum levels were evaluated fluorometrically. RESULTS: Liver function data were found elevated in the groups B and C. On the contrary, biotinidase activity was significantly statistically lowered (p < 0.001) in groups B and C (1.22 +/- 1.11, 0.97 +/- 0.07 mmol/min/L respectively), as compared with controls (5.20 +/- 0.90 mmol/min/L). Strong inverse correlations were observed between liver enzymes and VPA blood levels with the activity of the enzyme. Additionally, no inhibitory effect on biotinidase activity was found, when the enzyme was incubated in vitro with high (1.2 mM) concentrations of the drug. Skin lesions (seborrheic rash, alopecia) were improved in our patients after biotin (10 mg/day) supplementation. CONCLUSIONS: It is suggested that VPA impairs the liver mitochondrial function, resulting in a low biotinidase activity and or biotin deficiency. Biotin supplementation could restore some of the side effects of the drug.

Amidohydrolases↗
PubMed2001

Evaluation of serum lipoprotein(a) levels in Greek schoolchildren.

UNLABELLED: This study aimed to provide associations of age and gender with serum lipoprotein(a) [Lp(a)] levels and percentile distribution data for Greek children. In total, 3298 children (1590M, 1708F, aged 6-14 y) participated in the study. Lp(a) levels were evaluated with an immunosorbent assay. Mean Lp(a) levels were 153-157 mg l(-1) for boys and 146-151 mg l(-1) for girls, and median levels 133-139 mg l(-1) for boys and 100-108 mg l(-1) for girls. CONCLUSION: The Lp(a) levels in these children were the lower ever reported. These results suggest that the young Greek population is not at high risk of developing coronary heart disease as a result of high Lp(a) levels.

Adolescent↗
PubMed2000

Protective effect of L-phenylalanine on rat brain acetylcholinesterase inhibition induced by free radicals.

OBJECTIVE: To investigate whether the preincubation of brain homogenates with L-phenylalanine (Phe) could reverse the free radical effects on brain acetylcholinesterase (AChE) activity, since it has been reported that Phe binds hydroxyl radicals ((*)OH). DESIGN AND METHODS: Two well established systems were used for production of free radicals: (a) FeSO(4) (84 microM) plus ascorbic acid (400 microM), and (b) FeSO(4), ascorbic acid and H(2)O(2) (1 mM) at 37 degrees C in homogenates of adult rat whole brain. Changes in brain AChE activity were studied in the presence of each system separately. RESULTS: AChE was inhibited (18-28%) by both systems of free radicals. This inhibition was reversed when the brain homogenate was preincubated with Phe 1.8 mM. CONCLUSIONS: In accordance with our previous reports, Phe could protect against the direct action of (*)OH radicals on brain AChE and in this way it might be useful in the prevention of certain cholinergic neural dysfunctions.

Acetylcholinesterase↗
PubMed2000

Glucose-6-phosphate dehydrogenase deficiency neonatal screening: preliminary evidence that a high percentage of partially deficient female neonates are missed during routine screening.

OBJECTIVES: To provide preliminary evidence that the currently employed semiquantitative method of screening for glucose-6-phosphate dehydrogenase (G6PD) deficiency can only detect infants who are totally deficient for G6PD and misses all cases of partial G6PD deficiency. SETTING: General population: 2150 randomly selected blood samples from the Blood Donation Department, Speliopouleion General Hospital, Athens, Greece. Neonate population: 2000 samples from neonates (50% male; 50% female) in maternity hospitals in the greater Athens area. High risk population: a total of 545 individuals from 133 families in the Athens area, the minimum acceptance criteria being the parents and any brother or sister. METHOD: Blood specimens from neonates or adults were collected and either spotted and dried on special filter paper (Schleicher and Schull 2992, Darmstadt, Germany) or used in tubes after being heparinised. For the quantitative evaluation of G6PD enzyme activity, the Quantase G6PD screening kit (Quantase Limited, Perth, UK) was used. Quantase G6PD controls (Quantase Limited) were used at three levels of G6PD. These controls are rated at 24, 30, and 37 degrees C. Alternatively, we used the Sigma G6PDH controls (Sigma Chemical Company, St Louis, USA) which are rated at 30 and 37 degrees C. The assay was performed according to the instructions included in the kit with the modification for haemoglobin normalisation. RESULTS: General population: 36 females who were classified as having normal enzymatic activity with the semiquantitative test, were classified as partially deficient with the quantitative test. Neonate population: using the quantitative test, the percentage of G6PD deficient neonates in this population was 5.5%, compared with 3.17% reported in routine screening using the semiquantitative method. High risk population: the quantitative method detected 28 cases of total or partial G6PD deficiency in sisters of males with known total deficiency. The semiquantitative CONCLUSIONS: A considerable amount of partially G6PD deficient female neonates (heterozygotes) are undetected and classified as having normal enzymatic activity using the semiquantitative method, which uses a cut off of 2.1 U/g haemoglobin (Hb). The use of a fully quantitative G6PD screening kit is proposed, employing the automated haemoglobin normalisation and a cut off of 6.4 U/g Hb. Any neonate with an activity below this mark should be regarded as G6PD deficient, and all preventive measures should be taken.

Clinical Enzyme Tests↗
PubMed2000

Plasma leptin concentrations in phenylketonuric patients.

High levels of phenylalanine (Phe) in blood have been shown to reduce dopamine (DA) and noradrenaline (NA) production. Leptin levels rise with increasing adiposity in rodents and humans acting as a negative feedback adipostatic signal to brain centers. The aim of this study was to evaluate leptin plasma levels in phenylketonuria (PKU) patients adhering to their special diet and in those on a 'loose diet'. Forty-nine patients with classical PKU were divided into two groups. Those in group A (n = 21) adhered very strictly to their diet (Phe: 0.15 +/- 0.04 mmol/l) and those in group B (n = 28) were on a 'loose diet' (Phe: 0.8 +/- 0.04 mmol/l). Thirty healthy children of comparable age served as controls. Both patients and controls were in pubertal stage 0 (Tanner). BMI (kg/m(2)) was evaluated in all the members of the groups. Their daily nutrients were calculated with a 7-day dietary protocol. Leptin was evaluated by RIA, and Phe and Tyrosine with an amino acid autoanalyser. Adrenaline (A), NA and DA were measured by an HPLC method. Plasma leptin in group B patients (28.4 +/- 2.0 ng/ml) was significantly increased as compared to group A patients (16.8 +/- 2. 6 ng/ml) and controls (17.8 +/- 3.0 ng/ml; p < 0.001). Plasma DA, A, and NA in group B was lower than in group A and controls. Additionally, leptin negatively correlated with A and DA, whereas Phe positively correlated with the hormone in all groups. Leptin, also, correlated with BMI only in group A and controls. Additionally, the hormone negatively correlated with the total energy intake only in group A (r = -0.43, p < 0.01) and in controls (r = -0.040, p < 0.01). It is suggested that the disregulation of the neuroendocrine system as well as the high Phe blood levels might play an important role in the increased leptin concentrations in PKU patients on a 'loose diet'.

Case-Control Studies↗
PubMed1999

L-carnitine supplementation in patients with cystic acne on isotretinoin therapy.

BACKGROUND: Patients with cystic acne (CA) on Isotretinoin (Iso) therapy might present muscular symptoms as side effect of the drug. Myalgia, weakness, hypotension are also some of the main characteristics of carnitine (car) deficiency. METHODS: Two hundred and thirty (N = 230) patients with CA were treated with Isotretinoin (0.5 mg/kg per 24 h). All the patients were requested to visit our out-patient department at the onset of muscular symptoms. Laboratory tests including car (total, free, acylcarnitine) were determined in blood and urine before treatment, at the onset of muscular symptoms and after the end of a 45 day study. Fifty percent of the patients with muscular involvement received L-carnitine (100 mg/kg per 24 h per os) (group C) and 50% placebo (group P). RESULTS: Their laboratory tests showed the well known increases of their liver enzymes and lipids, whereas car blood levels were remarkably decreased at the onset of their muscular symptoms and or at the end of the study. Their supplementation with L-car, in patients of group C (N = 20) without Iso discontinuation or reduction, resulted in the disappearance of their muscular symptoms within 5-6 days and normalisation not only of the increased levels of their liver enzymes but also those of car, at the 45 day of their therapy. Additionally, the patients who received placebo (group P, N = 20) continued complaining for mualgias. The rest of the patients (group A, N = 190) did not experience any muscular symptoms, their laboratory tests showed elevation of liver enzymes and lipids and a decrease in car levels in the blood whereas a remarkable increase of car excretion was determined in their urine. CONCLUSIONS: Iso therapy decreases car blood levels in patients with CA. L-car supplementation might treat liver and muscular side effects of the drug. These hopeful preliminary results need further investigation.

Acne Vulgaris↗
PubMed1998

Elevated serum prolactin concentrations in phenylketonuric patients on a 'loose diet'.

OBJECTIVE: High levels of phenylalanine (Phe) have been shown to reduce dopamine (DA) and noradrenaline (NA) production. We have therefore evaluated whether increased serum Phe concentrations lead to increased prolactin (PRL) secretion in phenylketonuria. PATIENTS: Forty-two patients with classical phenylketonuria were divided into two groups. Group A (n = 19) adhered very strictly to their special diet (Phe = 0.09 +/- 0.039 mmol/l) and Group B (n = 23) were on a 'loose diet' (Phe = 0.77 +/- 0.45 mmol/l). Thirty healthy children of comparable age served as controls. MEASUREMENTS: PRL was measured by RIA, and Phe and tyrosine (Tyr) with an amino-acid autoanalyser. Adrenaline (A), noradrenaline (NA), and dopamine (DA) were measured by HPLC. RESULTS: Serum PRL in group B patients (1595 +/- 57 mU/l) was significantly raised compared to Group A patients (243 +/- 57 mU/l) and controls (201 +/- 55 mU/l) (P < 0.001). Serum DA, A and NA in group B were lower than in group A patients and controls. Serum Phe in group B patients was significantly correlated to serum PRL (r = 0.59) and DA (r = -0.41). Irregular menses were observed in 1/10 women from group A but in 10/13 in group B. CONCLUSION: High serum phenylalanine concentrations in phenylketonuric patients not strictly adhering to their diets are correlated with high serum PRL and low serum dopamine concentrations, and a high prevalence of menstrual irregularities.

Adolescent↗