C. Vianey-Liaud

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A defect in intracellular uptake of carnitine has been identified in patients with severe carnitine deficiency. To define the clinical manifestations of this disorder, the presenting features of 15 affected infants and children were examined. Progressive cardiomyopathy, with or without chronic muscle weakness, was the most common presentation (median age of(More)
To date, seven inborn errors of mitochondrial fatty acid oxidation have been identified. A total of about 100 patients in the world have been reported. Clinically the β-oxidation defects are more often characterized by episodic hypoglycaemia leading to a coma mimicking Reye's syndrome. The hypoglycaemia is non-ketotic since the synthesis of ketone bodies is(More)
A child presented in early childhood with episodes of coma and hypoglycemia and a rapidly evolutive myopathy and cardiomyopathy leading to death at 9 mo of age. Ketosis was decreased (blood beta-hydroxybutyrate: 0.07 mmol/L) despite normal plasma levels of fatty acids (0.81 mmol/L). The patient's urine contained excessive amounts of the C6 to C10(More)
References Kennaway, N. G., Harwood, P. J., Ramberg, D. A., Koler, R. D. and Buist, N. R. M. Citrullinemia: Enzymatic evidence for genetic heterogeneity. Pediatr. Res. 9 (1975) 554558 McMurray, W, C., Mohyuddin, F., Rossiter, R. J., Rathbun, R. C., Valentine, G. H., Koegler, S. J. and Zarfas, D. E. Citrullinuria: a new aminoaciduria associated with mental(More)
Three independent cases of Hemoglobin J-Baltimore(beta 16(A13)Gly----Asp) were detected through the assay of HbA1c in diabetic patients. Using chromatography on Bio-Rex 70 resin, one large peak replaced the usually well resolved peaks of HbA1a + b and HbA1c. The species that overlapped the latter fractions was identified as HbJ1c. HbJ-Baltimore itself was(More)
Combined deficiency of xanthine oxidase (XO, EC and sulphite oxidase (SO, EC, ("molybdenum cofactor" deficiency) is a very rare disorder. Up to now, only seven cases have been published (Duran et al., 1978; Munnich et al., 1983; Wadman et aI., 1983). In these patients, a metabolic defect at the level of the "molybdenum cofactor" common to(More)
Urinary excretion of an abnormal amount of N-acetylaspartic acid has been evident in a 17-month-old child with an infantile picture of Canavan-van Bogaert disease. This observation makes it possible to consider the possibility of a simple biological diagnosis and confirms the existence of metabolic abnormalities which will probably permit to make rapid(More)
Organic acidaemias are an important part of inborn errors of metabolism. The biochemical diagnosis is based on gas chromatographic/mass spectrometric identification of urinary organic acids. Since 1973 we have used gas chromatographic analysis of the methyl esters of urinary organic acids. Mass spectral identification was performed only when an abnormal gas(More)
Isolated sulphite oxidase deficiency (McKusick 27230) is a rare metabolic disorder in sulphur metabolism, inherited as an autosomal recessive trait. So far, it has been reported in three patients: a 21⁄2-year-old boy (Irreverre et al., 1967), a 41⁄2-year-old boy (Shih et al., 1977) and a 8-month-old boy reported by Shih et al. (1977). All patients presented(More)
In a collaborative study on sudden infant death syndrome (SIDS) in our area, we have been looking for inborn errors of metabolism by studying organic acid profiles using gas chromatography-mass spectrometry (GC/MS). Urinary organic acid analysis is the most useful test to exclude a great number of inborn errors of metabolism. Unfortunately, in most cases of(More)