A 5-year-old boy, excreting large amounts of 2-hydroxyglutaric acid in the urine (3.3–7.6
mmol/l), is described. The patient presented with psychomotor retardation and dystrophy. His …

A report is given on a hitherto undescribed metabolic disorder, characterized clinically by
fatal neonatal acidosis, hypoglycemia and a strong ‘sweaty-feet’ odour. Biochemical features …

A patient suffering from a combined deficiency of sulfite oxidase (sulfite dehydrogenase;
sulfite:ferricytochrome c oxidoreductase, EC 1.8.2.1) and xanthine dehydrogenase (xanthine:…

A child is described who presented in the neonatal period with feeding difficulties, severe
neurological abnormalities, lens dislocation of the eyes and dysmorphic symptoms of the head. …

We studied a 15-month-old girl who had normal T-cell and B-cell immunity at birth, after
which a gradual decrease in T-cell immunity developed. This selective cellular …

Clinical and biochemical data are presented on eight children with adenylosuccinase
deficiency. This newly discovered inborn error of purine metabolism is characterized by an …

Three different inherited disorders are known in which thiamine may exert a beneficial effect:
maple syrup urine disease (MSUD), lactic acidaemia and the syndrome of megaloblastic …

A family is described in which the father and three (and probably all four) of his children had
a decreased capacity for the oxidation of medium-chain fatty acids. One of the children …

… Van Gennip AH, Van Bree-Blom EJ, Grift J, De Bree PK, Wadman SK. Urinary purines and
pyrimidines in patients with hyperammonemia of various origins. Clin Chim Acta 1980; 104: …

A patient suffering froma mitochondrial myopathy leading to severe insufficiency of the
voluntary muscles is described. Severe cerebral damage was present. Major biochemical …