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Clinical variability of isovaleric acidemia in a genetically homogeneous population
TLDR
The amino acid substitution of a glycine to arginine resulted in a markedly reduced steady-state level of the IVD protein, which explains the nearly complete lack of IVD enzyme activity as assessed in fibroblast homogenates.
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Inhibition of N-acetylglutamate synthase by various monocarboxylic and dicarboxylic short-chain coenzyme A esters and the production of alternative glutamate esters.
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Identification of the stereoisomeric configurations of methylcitric acid produced bysi-citrate synthase and methylcitrate synthase using capillary gas chromatography-mass spectrometry
SummaryThe absolute separation of the four stereoisomeric configurations of methylcitric acid can be achieved on a nonchiral stationary phase SE30 capillary column using the correspondingO-acetylated…
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Variable clinical presentation in three patients with 3-methylglutaconyl-coenzyme A hydratase deficiency
TLDR
3 patients with 3- MG-CoA hydratase deficiency who also manifested widely differing clinical presentations are presented, bringing to eight the total number of patients with documented 3-MG-Co A hydr atase deficiency.
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Spondyloenchondromatosis with D-2-hydroxyglutaric aciduria: a report of a second patient with this unusual combination
TLDR
A male infant in South Africa with spondyloenchondromatosis and persistent D-2-hydroxyglutaric aciduria and a contiguous gene syndrome or a pleiotropic gene could be considered.
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Organic aciduria in late-onset biotin-responsive multiple carboxylase deficiency
TLDR
Late-onset, biotin-responsive, multiple carboxylase deficiency (McKusick 21021) is an inherited autosomal recessive disorder and high concentrations of dietary biotin are thus required to prevent the symptoms of theBiotin-deficient state.
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Urinary excretion of homocitric acid and methylhomocitric acid in propionic acidaemia: minor metabolic products of the citrate synthase aldol condensation reaction.
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A multidisciplinary diagnostic/genetic study on the 105 patients with mental retardation of the E.S. Le Grange School.
TLDR
A comprehensive genetic/diagnostic survey was undertaken at a special school for the mentally retarded involving 105 patients, finding that 6.7% could be attributed to perinatal damage, and no individual with the marker X syndrome was found in this group.
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The detection of 3-methylglutarylcarnitine and a new dicarboxylic conjugate, 3-methylglutaconylcarnitine, in 3-methylglutaconic aciduria.
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Postnatal and antenatal laboratory diagnosis of glutaric aciduria II in a South African family.
TLDR
Glutaric aciduria type II (GA II) was proved in a neonate who presented shortly after birth with respiratory distress, metabolic acidosis, non-ketotic hypoglycaemia and a sweaty-feet-like odour and should be considered in suspected organic acidaemia in the neonatal period.
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