Sibship with histidinemia and an unrelated encephalopathy. Clinical and biochemical studies.
Histidinemia was found in 3 of 4 siblings in one family, while a fatal encephalopathy with mental retardation was present in two of them and in the fourth child who did not have histidinemia. Biochemical studies of the histidinemic subjects showed elevated histidine levels in urine, CSF, and brain, while in a few urine samples histidine related imidazole compounds were found. Plasma levels of other amino acids were positively correlated with plasma histidine levels. Obesity and heart abnormalities appeared to be associated with the encephalopathy, which is probably of a new type. The histidinemia appears to be unrelated to the mental retardation or the encephalopathy in this family.
D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics*; D000596:Amino Acids / Q000097:blood; D001921:Brain / Q000378:metabolism; D001927:Brain Diseases / Q000235:genetics* / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics; D006639:Histidine / Q000097:blood* / Q000134:cerebrospinal fluid / Q000652:urine; D006801:Humans; D007093:Imidazoles / Q000652:urine; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics / Q000378:metabolism; D008297:Male; D009765:Obesity / Q000235:genetics
D000596:Amino Acids; D007093:Imidazoles; D006639:Histidine