Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake.

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 onset, 3 years).

[Inborn errors of lysine metabolism].

A wide variety of inborn errors of lysine catabolism have been described. They include: abnormalities of the mitochrondrial catabolism via the "saccharopine pathway", abnormalities of the peroxisomal catabolism via the pipecolic pathway, and "lysine intolerance with periodic ammonia intoxication" linked to urea cycle pathway. These inborn errors are associated with a wide variety of clinical symptoms and biochemical profiles as persistent hyperlysinemia, saccharopinuria, "amino and ketoadipic aciduria, and glutaric aciduria.

[Lysine metabolism in man].

Lysine is an important amino acid: it is incorporated to collagene, one of the most important component of conjonctive tissue and, though, necessary for growth. It is also important for carnitine synthesis. Its intestinal absorption requires two transport systems that lysine shares with ornithine, arginine and cystine for the former and with ornithine and arginine for the latter.

Deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase: a cause of lethal myopathy and cardiomyopathy in early childhood.

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.

Antenatal diagnosis of molybdenum cofactor deficiency.

Analysis of uncultured chorionic villus material from a woman at risk of fetus with sulfite oxidase deficiency revealed a deficiency of sulfite oxidase. This was confirmed on termination of the pregnancy.

Spongy degeneration of the neuraxis (Canavan-van Bogaert disease) and N-acetylaspartic aciduria.

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 progress in the physiopathologic study of this disease.

[Biotidinase deficiency: a disease with neurologic and cutaneous expression susceptible to biotin].

The authors report 2 familial cases of biotin deficiency. The first neurological signs appeared at the age of 2 years in a boy. The diagnosis was established in his sister in the neonatal period.

[Protein intolerance with lysinuria. Value of orotic aciduria in adjusting treatment with citrulline].

A new case of lysinuric protein intolerance is described in a 14 year-old Maghrebian child who presented with growth failure, vertebral osteoporosis, aversion to proteins and digital hippocratism, rarely described in this disease. Orotic aciduria was studied after a protein load with and without citrulline supplement and during the course of a 11 month-treatment. There was a clear relationship between orotic aciduria, protein intake and citrulline supplementation.

[Genetic heterogeneity of cystinuria. Study of 12 families].

The authors attempted to predict the genotypes of 15 cystinuric children, from the results of oral lysine loads on the propositus and the urinary excretion rates of cystine, lysine, ornithine and arginine of their parents and siblings. Type I cystinuria is more common, as well in the homozygous state, as in combination to type II or III (compound heterozygous genotypes).

Routine gas chromatographic/mass spectrometric analysis of urinary organic acids. Results over a three-year period.

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.

Hemoglobin J-Baltimore (beta 16(A13)Gly----Asp): interference with the assay of HbA1c.

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.

The inborn errors of mitochondrial fatty acid oxidation.

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 beta-oxidation defects are more often characterized by episodic hypoglycaemia leading to a coma mimicking Reye's syndrome.

[Determination of serum proline iminopeptidase activity using a fluorescent substrate in patients with Paget's disease and prostatic bone metastases. Preliminary results].

Assessment of proline iminopeptidase activity in serum has been performed in 80 control subjects, 14 Paget's diseases and 10 patients with prostatic and osteoblastic bone metastases. In normal subjects, the PIP activity rises with age, mainly (+63%) in women after menopause. In benign or malignant osteoblastic bone diseases PIP activity is elevated and slightly related to urinary hydroxyproline excretion (r = 0.

Gas chromatography--mass spectrometry (GC--MS) diagnosis of two cases of medium chain acyl-CoA dehydrogenase deficiency.

Two patients with hypoketotic hypoglycaemia and dicarboxylic aciduria are described. Studies of their urinary organic acids by gas chromatography-mass spectrometry (GC-MS) showed an excretion of dicarboxylic acids (adipic suberic and sebacic acids), unsaturated dicarboxylic acids (cis-octenedioic and decenedioic acids),5-hydroxyhexanoic acid, hexanoyl-glycine and suberylglycine. Deficiency of the medium chain acyl-CoA dehydrogenase (MCAD) in fibroblasts was documented for both children.