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Biomedical subjects

P Lutz

Publications and source records attributed to P Lutz.

17 recordsLinked to original sources
PubMed1979

Sensitive in vivo assay of the phenylalanine hydroxylating system with a small intravenous dose of heptadeutero L-phenylalanine using high pressure liquid chromatography and capillary gas chromatography/mass fragmentography.

A method is described which allows the in vivo determination of the phenylalanine hydroxylating system in atypical and classical phenylketonuria. Phenylalanine-d7 is administered i.v. (0.030 g/kg body weight) within 10 min. Tyrosine-d6 in plasma is measured from 30 to 240 min post load by using a computerized capillary gas chromatography/mass fragmentography system. In two patients with hyperphenylalaninemia, the residual activity of the phenylalanine hydroxylating system was 15.7 and 3.7% of the normal, in two phenylketonurics 1.5 and 0.3% respectively. The in vivo figures correspond well to the in vitro assay of the residual activity of the phenylalanine hydroxylase in needle liver biopsy material.

Adult↗
PubMed1978

Maple syrup urine disease: treatment of the acutely ill newborn.

Three patients with maple syrup urine disease were treated during the acute neonatal stage. Multiple exchange transfusions proved to be a satisfactory means of achieving rapid clinical and biochemical improvement during this phase. On the other hand, evidence is provided suggesting that in addition to exchange transfusions, a high calorie intake above 150 Cal/kg body weight/day is necessary to lower the plasma concentration of the branched chain amino acids to near-normal levels. As long as this calorie intake was not provided, further exchange transfusions failed to lower the plasma leucine concentration to below 17 mg/100 ml in one patient. It is assumed that this high calorie intake is necessary to prevent the breakdown of endogenous protein. Treatment of acute episodes in maple syrup urine disease should therefore not only eliminate the elevated alpha-keto acids and branched chain amino acids quickly (i.e. by multiple exchange transfusions or peritoneal dialysis), but in addition should provide a high calorie intake.

Energy Intake↗
PubMed1978

[Herpetiform bilateral epithelial corneal dystrophy caused by Tyrosinemia (Richner-Hanhart-Syndrome) (author's transl)].

Nutritional Tyrosinemia in animal experiments (Schweizer, Burns a. o.) caused an epithelial corneal dystrophy. The corresponding clinical picture is the Richner-Hanhart-Syndrome with herpetiform epithelial corneal dystrophy, palmo-plantar-keratosis and -- in some case -- a later developing oligophrenia. Goldsmith and coworkers suceeded to find out that all these symptoms are combined with tyrosinemia presumably caused ty one congenital enzyme defect. -- Personal clinical observations of such patients demonstrate that as well the corneal as the dermatological symptoms could be cured by diet, if the diagnosis is made in childhood. Corneal symptoms are still absent with a tyrosinemia as high as 10 mg%. Dietetic formula was found out to maintain this level, which is low enough to avoid the symptoms of Richner-Hanhart-Syndrome and certainly high enough to avoid symptoms of nutritional deficiency. One might expect that oligophrenia will not develop if this diet is used consequently. -- Since the first corneal symptoms develop already during the first years of life the ophthalmologist ought to know this etiology. The levels of tyrosinemia are so exorbitant (30--50 mg%) that the laboratory diagnosis is possible without any difficulty. If the diagnosis is only made in adult patients dietetic therapy is of limited value.

Age Factors↗
PubMed1978

[A new family with mutation of the structural gene of human ornithine carbamoyltransferase].

Studies of a child with hyperammonemia have demonstrated a deficiency in OCTase. The kinetic properties of the enzyme were studied and it could be shown that we have to deal with a new mutation which is different from the ones previously known. It is a mutation of the structural gene. The detection of a heterozygote is possible when the urinary orotic acid excretion is studied after a loading meal (2g of proteines per kilo of weight). A child with hyperammonaemia due to ornithine transcarbamylase deficiency is described. A new structural gene mutation is probable because the kinetic properties of the enzyme are different to previously described variants. The heterozygote could be detected by the measurement of the excretion of orotic acid in the urine following a protein load of 2 g/Kg.

Amino Acid Metabolism, Inborn Errors↗
PubMed1977

Group B streptococci: a new threat to the newborn.

8 newborns with early onset group B streptococcal infection and two patients with late onset meningitis were observed during a period of three years. Respiratory distress, early onset of apnoic spells, and roentgenographic signs of hyaline membrane disease or perinatal pneumonia may lead to early diagnosis, especially if shock develops. The fatal course can only be prevented by prompt antibiotic treatment.

Female↗
PubMed1977

Determination of glomerular function in advanced renal failure.

In 15 children with advanced chronic renal failure, glomerular filtration rate was determined by different methods. Inulin clearance correlated well with the mean of creatinine and urea clearance, and also with 51-chromium edetic acid (EDTA) clearance measured over 24 hours. The absolute values of creatinine clearance and of 51Cr-EDTA clearance measured up to 8 hours were higher than inulin clearance. In advanced renal failure both the 51Cr-EDTA clearance measured over 24 hours, and the mean of creatinine and urea clearance, provide acceptable estimates of true glomerular filtration rate.

Adolescent↗
PubMed1976

[Endocarditis lenta caused by Lactobacillus salivarius subsp. salicinicus (author's transl)].

After two tooth extractions performed without antibiotic cover endocarditis lenta occurred in a ten-year-old girl. The causative organism isolated was Lactobacillus salivarius subsp. salicinicus, the first such reported case. The child has a small, haemodynamically insignificant, ventricular septal defect. A cure was achieved after long-term administration of penicillin G in high doses, at first combined with ampicillin. There were no complications.

Ampicillin↗
PubMed1976

[Morphological and biochemical investigations of hairs in inborn errors of amino acid metabolism (author's transl)].

The influence of inborn errors of metabolism on the amino acid content, the structure and growth of human hair has been studied in patients suffering from Phenylketonuria, Cystinosis, Homocystinuria and Tyrosinosis. Examiniation of hairs under the scanning electron microscope reveals defects and abnormalities such as a plicated pattern of the cuticula in patients with Phenylketonuria and Cystinosis. The amino acid content of the hydrolized hair keratin of all patients was within normal range and did not reveal significant changes of phenylalanine, cystine, homocystine, methionine or tyrosine. Disturbance in hair growth was determined by evaluation of standardized hair root samples. The results indicate an increase in hair root atrophy with increasing severity of the disorder of amino acid metabolism.

Amino Acid Metabolism, Inborn Errors↗
PubMed1976

Determination of deuterium-labeled phenylalanine and tyrosine in human plasma with high pressure liquid chromatography and mass spectrometry.

A method is presented for the recovery of deuterated phenylalanine and tyrosine from human plasma. Phenylthiohydantoine derivatives are formed (Edman reaction) which are separated and isolated by high pressure liquid chromatography. The relative concentration of the deuterated amino acid is determined by mass spectrometry. The results obtained from a healthy person after oral loading with 40% monodeuterated L-phenylalanine are presented. The method appears to be suitable for in vivo studies of phenylalanine metabolism in humans.

Chromatography, High Pressure Liquid↗
PubMedDate not supplied

[Bile plug syndrome. A rare cause of curable cholestatic jaundice in the infant].

An eight week old baby who presented with a cholestatic jaundice had a bile plug in the ampulla of Vater. The plug was removal via a transduodenal approach. The bile plug syndrome is a rare cause of extrahepatic biliary cholestasis and is different from the inspissated bile syndrome in which the involvement is predominantly hepatocellular.

Ampulla of Vater↗