Порушення метаболізму гістидину

Histidinemia (235800*)

Histidine ammonia-lyase

Biochemical profile: Elevated plasma histidine

Clinical features: Frequently benign; neurologic manifestations in some patients

Treatment: Low-protein diet

For symptomatic patients only, controlled histidine intake

Urocanic aciduria (276880*)

Urocanase

Biochemical profile: Elevated urine urocanic acid

Clinical features: Possible mild intellectual disability, mild ataxia, nystagmus, and tremor

Treatment: None needed