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PubMed1997

Folate-responsive homocystinuria and megaloblastic anaemia in a female patient with functional methionine synthase deficiency (cblE disease).

This first detailed report of a female patient with functional methionine synthase deficiency due to the cblE defect describes treatment with several vitamins and cofactors and clinical progress for 17 years. Before treatment, major findings were microcephaly, psychomotor retardation, episodic reduced consciousness, megaloblastic anaemia, increased plasma free homocystine (> 20 mumol/L), low plasma methionine (< 10 mumol/L) and increased excretion of formiminoglutamate. On high-dose folic acid, biochemical abnormalities such as formiminoglutamate excretion and homocystinuria nearly normalized, but clinical and haematological abnormalities remained. On replacement of folate with methylcobalamin, alertness, motor function, speech and the electroencephalogram improved, biochemical features were similar, but the mean corpuscular volume increased. The best control was observed on a combination of folate and methylcobalamin. At 17 years of age she remains severely mentally retarded. In cultured fibroblasts methionine synthesis was reduced (0.03 nmol/mg/per 16 h, controls 2.4-6.9); methionine synthase activity was normal under high reducing conditions but decreased on limiting the reducing agent, dithiothreitol, to 5 mmol/L (18% of total, controls 51-81%); formation of methylcobalamin was low (4.5% of total cobalamins, control 57.5%) and complementation studies indicated the cblE defect. Methionine formation showed only minor increases in cells grown in folate- or cobalamin-supplemented medium. Serine synthesis, which was low in normal medium, increased with cobalamin supplementation. These studies suggest further heterogeneity within cblE mutants, show the difficulty of establishing the enzyme defect in vitro, and indicate a role for folate in addition to cobalamin in treatment.

5-Methyltetrahydrofolate-Homocysteine S-Methyltran↗
PubMed1980

X-linked ichthyosis and X-linked placental sulfatase deficiency: a disease entity. Histochemical observations.

The combined occurrence of X-linked steroid sulfatase deficiency of the placenta and X-linked ichthyosis is reported in 6 unrelated boys. Placental steroid sulfatase deficiency was diagnosed on the basis of a very low total estrogen excretion (6 cases), verified prenatally by the dehydroepiandrosterone sulfate (DHEAS) loading test in 4 cases and postnatally by clinical investigations (6 cases) and by biochemical investigations (5 cases). In addition, microsomal arylsulfatase C (MAS) could not be detected in the placental homogenate of the five cases investigated. Lysosomal arylsulfatases were within the normal range. All boys developed well except for X-linked ichthyosis. In the 5 cases investigated the skin biopsy showed the same MAS deficiency histochemically in the granular layer of the epidermis as in the trophoblast cells. The same holds true for the skin of carriers. Steroid sulfatase activity of cultured skin fibroblasts from the boys was almost nil (3 cases). The histochemical technique offers a practical approach in the scientific investigation of keratotic conditions.

Child, Preschool↗
PubMed1991

General theory of paradigms in health.

In Costa Rica, three sequential health paradigms have been identified over the last 50 years. The first began to develop during the 40's and has been called that of the deficiency diseases, since with a diachronic approach it placed excessive emphasis on malnutrition. The second began in 1970 and it is known as that of the infectious diseases, since through a holistic or synchronic approach, it underlined the importance of infections in high rates of morbidity and mortality. The third and last is the paradigm of the chronic diseases, it appeared in the 80's and is presently in process, doing battle with the chronic ailments, life styles, and environment, and it also utilizes a holistic approach. The recognition of these three paradigms has permitted Costa Rica a rapid advance in improving the health of its population, to the point that with a per capita outlay of $130 (US dollars), it has indices similar to those of the industrialized nations. This particular experience could be useful for other less-developed countries that are still applying the paradigm of the deficiency diseases.

Adult↗
PubMed1984

[Chronic nonspecific lung diseases, immunological deficiency and the means of its correction].

Ninety-eight patients with different patterns of chronic nonspecific pulmonary diseases (CNPD) were examined for thymus-dependent immunity. The clinical manifestations of T lymphocyte dysfunction included a torpid recurrent inflammatory process in the respiratory system, respiratory viral infections, short-term efficacy of antibacterial drugs. The patients demonstrated a decrease in the number of T lymphocytes, in production of immune interferon, and in secretion of serum thymic humoral factor. Application of tactivin, a new immunomodulator, is an effective approach to correction of the disorders enumerated. The drug has a beneficial effect on inflammatory process, reduces the symptoms of virus-induced intoxication. Administration of repeated tactivin treatment made it possible to shorten the time of repeated tactivin treatment made it possible to shorten the time of staying at hospital, to reduce the frequency of CNPD relapses from 80 to 36% within the period from 2 months to 1.5 years. This permits recommending the drug during resistance to antibiotic therapy.

Adjuvants, Immunologic↗
PubMed1996

Granulocyte colony-stimulating factor recruitment of CD34+ progenitors to peripheral blood: impaired mobilization in chronic granulomatous disease and adenosine deaminase--deficient severe combined immunodeficiency disease patients.

Peripheral blood (PB) CD34+ cells mobilized by granulocyte colony-stimulating factor (G-CSF) administration are potentially useful for transplantation and as a target of gene transfer for therapy of hematopoietic disorders. Efficient harvest and planning for clinical use of PB CD34+ cells ideally requires foreknowledge of the expected mobilization kinetics and yield. We developed a sensitive flow cytometric assay for accurately enumerating CD34+ cells throughout the range seen at baseline to peak mobilization. We used this assay to assess the kinetics of G-CSF-mediated mobilization of CD34+ cells to PB in normal volunteers and in patients with chronic granulomatous disease (CGD) or adenosine deaminase (ADA)-deficient severe combined immunodeficiency disease (SCID). Two dose levels of G-CSF were examined (5 and 10 micrograms/kg/d for 7 days). Both doses were well tolerated. For normal subjects and patients an increase in PB CD34+ cells was first detected only preceding the third dose of G-CSF (day 3), peaked transiently on day 5 or 6, and then decreased thereafter despite additional doses of G-CSF. With 32 normal volunteers mean peak CD34+ cell counts were 57 and 76 cells/mm2 of blood (5 and 10 micrograms doses, respectively), whereas for 18 CGD patients the mean peaks were 31 and 40 cells/mm2 of blood. For 2 ADA-deficient SCID patients studied at a G-CSF dose of 5 micrograms/kg/d, the average peak was 16 cells/mm2 of blood. For both of these patient groups mobilization of CD34+ cells to PB was impaired compared with similarly treated normal subjects (P < .05). By contrast to the kinetics of the CD34+ cell mobilization, the absolute neutrophil count (ANC) increased markedly by 6 hours after the first dose of G-CSF and then increased steadily through day 8. At days 5 and 6 (peak mobilization of CD34+ cells) the mean ANC of CGD and ADA patients was only slightly lower ( < or = 15%) than that seen with normal subjects, whereas the difference in CD34+ cell mobilization was > 48%. Thus, ANC is not a reliable surrogate to predict peak PB CD34+ cell counts and direct enumeration of PB CD34+ counts should be undertaken in decisions regarding timing and duration of apheresis to harvest a specific number of these cells. Finally, unexpected, but significant differences in the PB CD34+ cell mobilization between normal subjects and patients with inherited disorders can occur and underscores the importance of establishing the expected mobilization of PB CD34+ cells in the planning of treatment approaches using these cells.

Adenosine Deaminase↗
PubMed1990

21-hydroxylase deficiency: disease-causing mutations categorized by densitometry of 21-hydroxylase-specific deoxyribonucleic acid fragments.

The types of disease-causing mutations were studied in 43 unrelated patients with 21-hydroxylase deficiency. Densitometry of Southern blots after cleavage with the restriction enzymes TaqI, PvuII, and BglII was used to measure the ratio of the copy-number of the 21-hydroxylase gene (CYP21) to the copy-number of its pseudogene (CYP21P). DNA from 16 unrelated patients showed equal hybridization intensities of the 2 genes, indicating that point mutations caused the enzyme deficiency. One of the 2 haplotypes in 7 patients showed evidence of a large gene conversion between the CYP21 and the CYP21P gene without loss of the total number of 21-hydroxylase genes. Deletion of at least 1 21-hydroxylase gene was found in 11 patients. DNA from 8 of these patients had relative hybridization intensities compatible with a deletion of the active 21-hydroxylase gene, CYP21. Two patients with the salt-wasting form of the disease showed homozygous loss of DNA fragments that are specific for the 5' end of the active 21-hydroxylase gene. Nine patients showed relative 21-hydroxylase hybridization intensities compatible with duplication of the gene in 1 or both haplotypes. In conclusion, point mutations, gene conversions, or CYP21 gene deletions are the typical mutations in patients with the simple virilizing and salt-wasting forms of the disease, while duplications of the locus are overrepresented in patients with nonclassical 21-hydroxylase deficiency.

Adrenal Hyperplasia, Congenital↗
PubMed1994

Prenatal detection of Canavan disease (aspartoacylase deficiency) by DNA analysis.

Amniocentesis was performed in four pregnancies at risk for Canavan disease (CD). In all families both parents were of Ashkenazi-Jewish origin and harboured the C854 mutation in the cDNA of the aspartoacylase gene. Using DNA analysis of the amniotic cells, three fetuses were predicted to be non-affected and one fetus was predicted to be affected. The concentration of N-acetylaspartic acid (NAA) in the amniotic fluid was in agreement with these results. In urine samples of the three newborns predicted to be non-affected, the concentration of NAA was normal. Tissues of the aborted fetus were not available. We conclude that DNA analysis is probably a reliable method for prenatal diagnosis of CD.

Amidohydrolases↗
PubMed1975

Infantile Gaucher's disease: glucocerebrosidase deficiency in peripheral blood leukocytes and cultured fibroblasts.

A patient with infantile Gancher's disease is described. A marked decrease of the activity of beta-glucosidase at the lower pH 4.2 was found in peripheral blood leukocytes, whereas in cultured skin fibroblasts the activity at both pH'S 4.2 and 5.2 was decreased. Examining the leukocytes of the heterozygous parents the activities of beta-glucosidase at both pH's were within the values of controls, but the ratio's of activity of pH 5.2 to that at pH 4.2 were increased lying between the ratio's from the patient and controls.

Cells, Cultured↗
PubMed1979

Is multiple sulphatase deficiency due to defective regulation of sulphohydrolase expression?

Multiple sulphatase deficiency disease is an unusual autosomal recessive disorder characterised biochemically by a deficiency of several sulphohydrolase activities. The laboratory diagnosis of this combined neurological connective tissue disorder is made on the basis of decreased activities of the lysosomal enzymes, arylsulphatase A and arylsulphatase B and the microsomal enzyme, arylsulphatase C. The primary defect in this multi-enzyme deficiency has not been identified. Using immunological techniques to characterise further the residual activities of arylsulphatases A and B in the multiple sulphatase deficiency disease, we have examined the levels of cross-reaching material (CRM) to arylsulphatases A and B in cultured skin fibroblasts from controls and patients with multiple sulphatase deficiency, metachromatic leukodystrophy (deficiency of only arylsulphatase A activity) and Maroteaux-Lamy syndrome (deficiency of only arylsulphatase B activity). We report here results indicating that arylsulphatases A and B in multiple sulphatase deficiency are reduced in their levels of CRM while retaining a normal activity/CRM ratio. Because the two enzymes are apparently structurally unrelated, these data are consistent with the possibility that their combined deficiencies in this disorder may result from a defect in the coordinated expression of sulphohydrolases.

Arylsulfatases↗
PubMed1990

[General theory of paradigms in health].

In Costa Rica, three sequential health paradigms have been identified over the last 50 years. The first began to develop during the 40's and has been called that of the deficiency diseases, since with a diachronic approach it placed excessive emphasis on malnutrition. The second began in 1970 and it is know a that of the infectious diseases, since through a holistic or synchronic approach, it underlined the importance of infections in high rates of morbidity and mortality. The third and last is the paradigm of the chronic diseases, it appeared in the 80's and is presently in process, doing battle with the chronic ailments, life styles, and environment, and it also utilizes a holistic approach. The recognition of these three paradigms has permitted Costa Rica a rapid advance in improving the health of its population, to the point that with a per capita outlay of $130 (U.S. dollars), it has indices similar to those of the industrialized nations. This particular experience could be useful for other less developed countries that are still applying the paradigm of the deficiency diseases.

Chronic Disease↗
PubMed2001

Prion diseases: copper deficiency states associated with impaired nitrogen monoxide or carbon monoxide transduction and translocation.

Literature concerning prion diseases and Cu metabolism was examined to determine merits of various suggestions concerning the relationship between these diseases and altered Cu metabolism. There are a number of recent suggestions that the normal non-pathogenic form of the prion protein (PrP(C)) contains Cu while the abnormal pathogenic form of this protein, PrP(SC), lacks Cu. Results of experiments showing oxidant sensitivity in the presence of ionically bonded Cu and millimolar concentrations of hydrogen peroxide were found to lack relevance. Demonstrating superoxide disproportionation and a correlation with cellular Cu2Zn2SOD activity is relevant and consistent with a role for PrP(C) in Cu endocytosis. There are also a number of recent suggestions that PrP(C) has a role in nerve transmission. Serum from mice that lack cellular PrP(C) was found to have an elevated Cu content consistent with a response to overcome an inflammatory disease. Attempts to induce a 'transmissible' form of prion disease requiring intracerebral injections of somewhat purified brain homogenates were found lacking in support for an etiology occurring as the result of oral ingestion of supposedly 'infected' tissues. It is suggested that PrP(C) is a normal Cu-dependent cuproglycoprotein of unknown function that may have a role in facilitating normal nitrogen monoxide- or carbon monoxide-mediated biochemistry.

Animals↗
PubMed2003

The role of thiamine deficiency in alcoholic brain disease.

A deficiency in the essential nutrient thiamine resulting from chronic alcohol consumption is one factor underlying alcohol-induced brain damage. Thiamine is a helper molecule (i.e., a cofactor) required by three enzymes involved in two pathways of carbohydrate metabolism. Because intermediate products of these pathways are needed for the generation of other essential molecules in the cells (e.g., building blocks of proteins and DNA as well as brain chemicals), a reduction in thiamine can interfere with numerous cellular functions, leading to serious brain disorders, including Wernicke-Korsakoff syndrome, which is found predominantly in alcoholics. Chronic alcohol consumption can result in thiamine deficiency by causing inadequate nutritional thiamine intake, decreased absorption of thiamine from the gastrointestinal tract, and impaired thiamine utilization in the cells. People differ in their susceptibility to thiamine deficiency, however, and different brain regions also may be more or less sensitive to this condition.

Alcohol Amnestic Disorder↗
PubMed1994

Screening for biotinidase deficiency in some skin diseases.

Biotinidase deficiency is an inherited, autosomal recessive disorder involving gluconeogenesis, synthesis of fatty acids and catabolism of branched chain amino acids. As the cutaneous manifestations have been described to be a prominent part of the clinical picture, we tested a group of children and adults with various skin lesions. The blood-spot screening test was repeatedly (new disc and new card) positive in some patients suffering from psoriasis and atopic eczema. The quantitative assay does not confirm the decrease of serum biotinidase activity. Some alternative explanations of these results are put forward.

Adolescent↗
PubMed2005

Immunoglobulin G (IgG) anti-tissue transglutaminase antibodies used as markers for IgA-deficient celiac disease patients.

The role of immunoglobulin A (IgA) anti-tissue transglutaminase antibodies (IgA-tTG) as predictors of untreated celiac disease (CoD) is well documented, and the presence and levels of these antibodies are most accurately monitored with native or recombinant human antigens. However, IgA-deficient CoD patients are not identified by IgA serology, and conflicting results concerning the diagnostic validity of IgG antibodies against gliadin (IgG-AGA), endomysium (IgG-EmA), and tTG (IgG-tTG) have been reported. The aim of the present study was to evaluate the utility of IgG-tTG for the detection of CoD in IgA-deficient patients. Samples from 115 IgA-deficient and 200 IgA-sufficient subjects were collected and tested for the presence of IgA and IgG antibodies against tTG, EmA, and AGA. Antibodies against tTG were measured by an enzyme-linked immunosorbent assay based on recombinant human tTG, and antibodies against EmA were determined by immunofluorescence. The values for IgG-tTG showed a higher correlation (correlation coefficient [r] = 0.91) with those for IgG-EmA for the IgA-deficient subjects than for the IgA-sufficient subjects (r = 0.88). The overall concordance of the positive and negative results between IgG-tTG and IgG-EmA was 97%, and the IgG-tTG assay discriminated between IgG-EmA-positive and -negative subjects with IgA deficiency at a rate of 100%. Elevated levels of IgG-tTG and IgG-EmA were measured in 70% of the IgA-sufficient subjects. IgG-tTG detection with recombinant human tTG is a good alternative to IgG-EmA detection, and the addition of IgG-tTG assessment to present screening methods may improve the ability to identify IgA-deficient subjects with CoD.

Biomarkers↗
PubMed1995

[Study on mitochondrial ultrastructure, trace elements and correlative factors of gastric mucosa in patients with spleen deficiency syndrome].

Eighty-eight gastropathic patients with Spleen deficiency syndrome by using transmission electron microscope (TEM), X-ray energy disperse analysis system (EDAX), histochemical staining and radioimmuno methods were examined. The authors found that the gastric mucosa cAMP, SOD level, the quantity of mitochondria and its crista, the ratio of diameter between ventricle and cavity of mitochondria and the content of Zn, Cu of mitochondria were reduced in the trend of healthy control group, Spleen Qi deficiency group, Spleen deficiency with Qi stagnation group; chronic superficial gastritis group, chronic atrophic gastritis group, gastric cancer group: complete small intestinal metaplasia group, incomplete small intestinal metaplasia group, complete colonic intestinal metaplasia group, incomplete colonic intestinal metaplasia group (P < 0.05-0.001). While the degeneration rate of mitochondria, the Cu/Zn ratio of mitochondria, the metaplasia rate of gastric, the rate of incomplete colonic intestinal metaplasia and the content of serum LPO were increased in the above turn. It is suggested that the comprehensive effect of the degeneration of mitochondria and the quantitative changes of its correlative factors is the physiopathologic base for inducing Spleen deficiency disease, gastric mucosa metaplasia and canceration. Much attention must be paid in clinic to the cancerization trend of gastric disease with Spleen deficiency syndrome.

Adult↗