[Arginase deficiency, congenital hypothyroidism and hepatic fibrosis].
A new case of arginase deficiency in a newborn is reported. In contrast with previous cases, this infant showed severe protein intolerance of early onset. Diagnosis was based on the assay of urea cycle enzymes in a postmortem liver sample and on arginase activity in erythrocytes of parents and sister of the patient. "Pedigree" shows that arginase deficiency in this family presents a dramatic course. Congenital hypothyroidism with athyreosis, moderate hepatic fibrosis and megamitochondria are present in the same subject. Possible significance of these findings is briefly discussed.
Portolés
M
M
Instituto de Investigaciones Citológicas de la Caja de Ahorros de Valencia.
Jordá
A
A
Vilas
J
J
García-Piño
J
J
D003409:Congenital Hypothyroidism; D006801:Humans; D020162:Hyperargininemia; D007037:Hypothyroidism / Q000150:complications; D007231:Infant, Newborn; D008103:Liver Cirrhosis / Q000150:complications*; D008297:Male; D010375:Pedigree
Deficiencia en arginasa, hipotiroidismo congénito y fibrosis hepática.