Histidinemia

Histidinemia in Two Successive Generations

“…Improvement has been noted in the school performance since speech therapy was started. Abnormal EEGs were present in the cases of Woody et al 3 The propositus, his two sib¬ lings, his mother, and one affected aunt have a pattern consistent with Gibbs epilepsy or cerebral parox¬ ysmal dysrhythmia. It is likely that this anomaly is unrelated to the metabohc disorder, since two cousins with normal urine histidine have similar abnormal tracings, and one of the histidinemic maternal aunts (AI-9) has a normal tracing.…”

Hereditary hypo/de‐pigmented dermatoses: An overview

“…In some patients with cystathione synthetase deficiency, supplementation with pyridoxine can reverse hypopigmentation of the hair 117 . Histidinemia patients also reveal fair to reddish hair, blue eye and a fair skin 118 . In Menke's syndrome, tyrosinase deficiency may result in a reduced cutaneous pigmentation.…”

Hereditary hypo/de-pigmented dermatoses: An overview

“…117 Histidinemia patients also reveal fair to reddish hair, blue eye and a fair skin. 118 In Menke's syndrome, tyrosinase deficiency may result in a reduced cutaneous pigmentation. In addition, the hair that is normal at birth, develops a characteristic sparse, wiry, depigmented profile within 6-8 weeks of age.…”