19 Result(s)
within
E. R. Baumgartner
Pediatrics
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Article
Coenzyme Q10 is decreased in fibroblasts of patients with methylmalonic aciduria but not in mevalonic aciduria
The content of coenzyme Q10 (CoQ10) was examined in skin fibroblasts of 10 patients with mevalonic aciduria (MVA) and of 22 patients with methylmalonic aciduria (MMA). Patients with these inborn errors of metabol...
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Article
CASE REPORT: CblC/D defect combined with haemodynamically highly relevant VSD
An infant with combined methylmalonic aciduria and homocystinuria (cblC/D defect) presented with significant VSD. She underwent successful cardiac surgery at 53 days.
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Article
Transcobalamin II deficiency with methylmalonic aciduria in three sisters
Transcobalamin II (TC II) is a plasma protein that binds vitamin B12 (cobalamin, Cbl) and facilitates cellular Cbl uptake by receptor-mediated endocytosis. In autosomal recessive TC II deficiency, intracellular C...
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Article
Metabolic stroke in isolated 3-methylcrotonyl-CoA carboxylase deficiency
A mildly retarded infant with failure to thrive developed hypoglycaemia, focal seizures, respiratory failure and hemiparesis during a febrile episode at the age of 16 months. A brain scan was initially normal...
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Article
Holocarboxylase synthetase deficiency: Report of a case with onset in late infancy
A case of holocarboxylase synthetase (HCS) deficiency of late-infantile onset is presented and compared with the common manifestations in previously reported patients. Our patient had her first episode at 20 m...
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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
Partial 3-methylcrotonyl-CoA carboxylase deficiency in an infant with fatal outcome due to progressive respiratory failure
Isolated partial 3-methylcrotonyl-CoA carboxylase (MCC) deficiency has been described to be the cause for a distinct relatively mild clinical picture in a single patient. We describe another patient with isol...
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Article
Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency: Long-term outcome in a case with neonatal onset
A patient with early-onset 3-methylcrotonyl coenzyme A carboxylase (MCC) deficiency showing a severe clinical course is described. Abnormal eye and head movements suggestive of seizures were noticed soon after...
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Article
BiotinidaseK m-variants: detection and detailed biochemical investigations
We describe a simple method for the detection of biotinidaseK m-variants and detailed biochemical investigations in 5 such patient. They were detected among 103 patients with plasma biotin...
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Article
Propionic acidaemia: clinical, biochemical and therapeutic aspects
Comprehensive data on 30 patients with propionic acidaemia, diagnosed by selective screening for inborn errors of metabolism, are presented. The most valuable diagnostic metabolites found were methylcitric-, 3...
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Article
Holocarboxylase synthetase deficiency: Early diagnosis and management of a new case
We present a new case of holocarboxylase synthetase (HCS) deficiency, a rare autosomal recessive metabolic disorder, causing the “early-onset” form of multiple carboxylase deficiency. The patient was born at t...
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Article
Cerebrospinal fluid organic acids in biotinidase deficiency
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Article
Symmetrical necrosis of the basal ganglia in methylmalonic acidaemia
In a patient with methylmalonic acidaemia (MMAA), persistent neurological symptoms were observed in addition to the acute episodes of metabolic dysequilibrium. CT scan and magnetic resonance imaging revealed b...
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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
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
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...
