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Article
Late-onset holocarboxylase synthetase-deficiency: pre- and post-natal diagnosis and evaluation of effectiveness of antenatal biotin therapy
The clinical and biochemical findings in a family with late-onset holocarboxylase synthetase (HCS) deficiency are described. The index patient had two life-threatening episodes of metabolic decompensation at ...
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Article
Abnormal cerebral hemodynamics during attacks of alternating hemiplegia
Frequent episodes of bilateral weakness and apathy, followed later by hemiplegia of alternating sides were observed in a now 32-month-old girl. Transcranial Doppler ultrasonography showed reduced flow velociti...
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Article
Comparison of patients with complete and partial biotinidase deficiency: Biochemical studies
Seventeen partially biotinidase-deficient patients detected by neonatal screening or family studies were compared with four patients with classical biotinidase deficiency. Using a sensitive HPLC method for bio...
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Article
Chronic interstitial nephritis: a long-term complication of methylmalonic acid(MMA)-emia
In a girl with a Cbl A mutant of MMA-emia treated since the neonatal period with a low protein diet, MMA conc. in urine (mol/mol creat.) varied from 0.9-3.5 (x=2.2) rising to max. 6.4 during infections. MMA pl...
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Article
Low biotinidase activity in plasma of some preterm infants: possible source of false-positive screening results
Screening for biotinidase deficiency has been added recently to some national screening programmes. To clarify the problem of false-positive screening tests in premature infants, we have studied biotinidase ac...
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Article
Foamy myocardial transformation in a child with a disturbed respiratory chain
A female infant presented with signs of general muscle hypotonia and increasing hypertrophy of the heart muscle. There was a constant lactic acidosis worsened after glucose intake. Serum lactate levels were in...
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Article
Comparison of Folic Acid Coenzyme Distribution Patterns in Patients with Methylenetetrahydrofolate Reductase and Methionine Synthetase Deficiencies
ABSTRACT: Folic acid coenzyme distribution patterns were examined in the liver and kidney of two patients with homocystinuria due to different inborn errors of metabolism affecting the remethylation of homocys...
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Article
Homozygous hypobetalipoproteinaemia and phenylketonuria
Two patients, aged 0.1 and 2 years, with homozygous hypobetalipoproteinaemia, one with PKU in addition are described. The clinical evaluation showed no neurologic abnormalities. Treatment with a fat-reduced, p...
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Article
Intestinal absorption and renal excretion of biotin in patients with biotinidase deficiency
We have investigated four patients from three unrelated families with typical clinical and biochemical features of “late-onset” multiple carboxylase deficiency. All patients suffered from biotinidase deficienc...
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Article
Biotinidase deficiency: Factors responsible for the increased biotin requirement
Inability to recycle biotin from endogenous biocytin in congenital biotinidase deficiency is associated with increased requirement of exogenous free biotin. We have observed that severe biotin depletion with c...
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Chapter
Biotinidase Deficiency: Factors Responsible for the Increased Biotin Requirement
Inability to recycle biotin from endogenous biocytin in congenital biotinidase deficiency is associated with increased requirement of exogenous free biotin. We have observed that severe biotin depletion with c...
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Chapter
Biotin-responsive Multiple Carboxylase Deficiency (MCD): Deficient Biotinidase Activity Associated with Renal Loss of Biotin
Biotin-responsive multiple carboxylase deficiencies (MCD) are inherited disorders characterized biochemically by the accumulation of a typical pattern of organic acids, caused by decreased activity of the thre...
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Article
Vascular lesions in two patients with congenital homocystinuria due to different defects of remethylation
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Article
Thiamine (Th) dependent pyruvatedehydrogenase (PDH) deficiency: 3
The biochemical abnormalities in vitamine dependencies are poorly understood. Defects of coenzyme synthesis or transport improved by mass action, compensation of decreased affinity of the apoenzyme for its coe...
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Article
Thiamine dependency in a patient with congenital lacticacidaemia due to pyruvate dehydrogenase deficiency
A patient with congenital lactic acidosis, muscular hypotonia and severe ataxia is reported. The aetiology of his disease was found to be a deficiency of pyruvate dehydrogenase (E.C. 4.1.1.1.). Thiamine treatm...
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Article
83: Hyperlysinemia as an early symptom of the “ketotic hyperglycinemia” syndrome
Significant hyperlysinuria, pipecolic aciduria, hyperlysinemia and hyperammonemia were found in two unrelated infants presenting with severe muscular hypotonia and somnolence in the first weeks of life. In the...
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Article
Quantitative determination of aldehydes and ketones in metabolic disorders
The excretion of ketones other than acetone has been described in a few reports of patients with the ketotic hyperglycinemia syndrome. Our unexpected finding of butanone, 2-and 3-pentanone in the urine of Gomp...
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Article
Prevention of catabolic state during febrile infection in maple sirup urine disease
In maple sirup urine disease febrile infections endanger life due to the associated catabolic state which raise leucine etc. concentrations to toxic levels. The ratio of glucagon/insulin which is closely relat...
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Article
Citrullinemia: Elevated serum citrulline levels in healthy siblings
Die Familienuntersuchung eines 3. Falles von Citrullinaemie spricht für eine autosomal heterozygote Vererbung. Die Merkmalsträger können durch eine einfache Nüchternserum-Bestimmung des Citrullins von den nich...
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Article
Über die unterschiedliche Giftigkeit von Pharmaka nach subcutaner, intragastraler und intraduodenaler Applikation bei Ratten
