Sibship with histidinemia and an unrelated encephalopathy. Clinical and biochemical studies
Brown, E.S.; Waisman, H.A.; Geison, R.L.; Gerritsen, T.
Helvetica Paediatrica Acta 32(4-5): 401-411
1977
ISSN/ISBN: 0018-022X PMID: 617985 Document Number: 118034
Histidinaemia was found in 3 of 4 siblings in 1 family, while a fatal encephalopathy with mental retardation was present in 2 of them and in the fourth child who did not have histidinaemia. Biochemical studies of the histidinaemic subjects showed high histidine values in urine, cerebrospinal fluid and brain, while in a few urine samples histidine-related imidazole compounds were found. In plasma other amino acids were positively correlated with histidine. Obesity and heart abnormalities seemed to be associated with the encephalopathy, which is probably of a new type. The histidinaemia seems to be unrelated to the mental retardation or the encephalopathy in this family.