17 beta-carboxamide steroids are a new class of glucocorticoid antagonists.
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Animals↗
Biomedical subjects
P Formstecher
Publications and source records attributed to P Formstecher.
Carbamyl-phosphate-synthetase deficiency with neonatal onset of symptoms.
The clinical course and biochemical findings in a case of carbamyl-phosphate-synthetase deficiency are described. The patient, a boy, presented 48 h after birth with rapidly developing hypotonia and hypothermia. Pulmonary haemorrhage, melaena and haematemesis ensued and despite ventilatory assistance and peritoneal dialysis the patient died on the fifth day. A virtual absence of carbamyl phosphate synthetase I (N-acetylglutamate dependent) was proved by analysis of tissue samples removed post mortem. Other urea cycle enzymes were normal.
Amino Acids↗
[Pathological and biochemical studies on a neonatal case of argininosuccinic aciduria (author's transl)].
A newborn infant affected by argininosuccinic aciduria was treated with a hypoproteinaemic diet and survived up to the age of three months. Post mortem biochemical studies have confirmed the absence of argininosuccinase activity in kidney, liver and brain and a marked storage of argininosuccinic acid in the brain. The histological study of the central nervous system shows no Alzheimer type II cells; there is neither demyelination nor spongiosis. Such results are totally different from those recorded in untreated cases; they represent very likely the effects of the diet which has controlled the hyperammoniaemia and prevented a deficiency of arginine.
Amino Acid Metabolism, Inborn Errors↗