84 Result(s)
within
M. Duran
Human Genetics
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Article
Clinical variability of isovaleric acidemia in a genetically homogeneous population
Isovaleric acidemia (IVA) is one of the most common organic acidemias found in South Africa. Since 1983, a significant number of IVA cases have been identified in approximately 20,000 Caucasian patients screen...
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Article
Valproic acid metabolism and its effects on mitochondrial fatty acid oxidation: A review
Valproic acid (VPA; 2-n-propylpentanoic acid) is widely used as a major drug in the treatment of epilepsy and in the control of several types of seizures. Being a simple fatty acid, VPA is a substrate for the fat...
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Article
High incidence of hypermethioninaemia in a single neonatal intensive care unit detected by a newly introduced neonatal screening programme
From 1 January 2007 an expanded neonatal screening programme was initiated in the Netherlands, including homocystinuria with methionine as the primary marker. During the first 2 months hypermethioninaemia was ...
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Article
Open AccessRenal Fanconi syndrome with ultrastructural defects in lysinuric protein intolerance
Renal Fanconi syndrome developed rapidly in a 3-year-old Moroccan girl with established lysinuric protein intolerance. She was hospitalized because of lowered consciousness, uncoordinated movements and hepatos...
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Article
Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I)
Glutaryl-CoA dehydrogenase (GCDH) deficiency is an autosomal recessive disease with an estimated overall prevalence of 1 in 100 000 newborns. Biochemically, the disease is characterized by accumulation of glut...
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Article
Prolonged moderate-intensity exercise without and with L-carnitine supplementation in patients with MCAD deficiency
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is probably the most common inborn error of fatty acid oxidation (FAO). Routine L-carnitine supplementation in the treatment of MCADD is controversial. To es...
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Article
Ornithine aminotransferase deficiency: Diagnostic difficulties in neonatal presentation
We describe two unrelated cases of ornithine aminotransferase (OAT) deficiency with rare neonatal presentation of hyperammonaemia. The diagnosis in the neonatal presentation of OAT deficiency is hampered as hy...
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Article
The 625G>A SCAD gene variant is common but not associated with increased C4-carnitine in newborn blood spots
The 625G>A variant of the short-chain acyl-CoA dehydrogenase (SCAD) gene is considered to confer susceptibility for develo** ‘clinical SCAD deficiency’ and appears to be common in the general population. To ...
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Article
Glutathione synthetase deficiency associated with antenatal cerebral bleeding
Summary: We present a newborn with glutathione synthetase deficiency and intracranial haemorrhages. Because the latter are rare in term newborns a possible relationship with glutathione synthetas...
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Article
Silent and symptomatic primary carnitine deficiency within the same family due toidentical mutations in the organic cation/carnitine transporter OCTN2
A family of Turkish origin with primary systemic carnitine deficiency in the father and his two sons is described. In all three individuals, the same homozygous mutation in the OCTN2 gene (R471H) was present a...
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Article
High activity of fatty acid oxidation enzymes in human placenta: Implications for fetal-maternal disease
As the human fetus and placenta are considered to be primarily dependent on glucose oxidation for energy metabolism, the cause of the remarkable association between severe maternal pregnancy complications and ...
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Article
The eye as a window to inborn errors of metabolism
Summary: Ocular manifestations in inborn errors of metabolism occur in many diseases and may be associated with any part of all eye components. In a minority of diseases it is possible to...
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Article
Short Report: Plasma pipecolic acid is frequently elevated in non-peroxisomal disease
Summary: We reviewed our data on patients in whom plasma pipecolic acid wasanalysed. Mild to moderate elevations of pipecolic acid were frequently found in non-peroxisomal disorders and this should be taken into...
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Congenital microcephaly and seizures due to 3-phosphoglycerate dehydrogenase deficiency: Outcome of treatment with amino acids
Congenital microcephaly, intractable seizures and severe psycho-motor retardation characterize 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, a disorder of L-serine biosynthesis. The enzyme defect resul...
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Article
Prolidase deficiency diagnosed by 1H NMR spectroscopy of urine
Three urine samples from two prolidase-deficient patients were analysed using 1H NMR spectroscopy. One-dimensional 1H NMR spectra showed a characteristic pattern of overlap** resonances of the proline and hydro...
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Article
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates
Four neonates with a positive phenylalanine screening test (Phe concentrations between 258 and 1250 μmol/L) were investigated further to differentiate between phenylalanine hydroxylase (PAH) deficiency and var...
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Article
Hyperketonaemia in glycerol kinase deficiency
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Article
Isolated and contiguous glycerol kinase gene disorders: A review
Glycerol kinase deficiency (GKD) is an X-linked recessive disorder. There are two types, an isolated form and a complex form. We review the clinical, biochemical and molecular genetic features of GKD. The clin...
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Article
Mevalonic aciduria in 12 unrelated patients with hyperimmunoglobulinaemia D and periodic fever syndrome
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Article
Dietary therapy in two patients with a mild form of sulphite oxidase deficiency. Evidence for clinical and biological improvement
We report an attempt at dietetic therapy in two unrelated patients with isolated sulphite oxidase deficiency, with a mild clinical course and late onset of symptoms. In case 1, disease started at 15 months wit...
