Disorders of Tyrosine Metabolism

摘要: Five inherited disorders of tyrosine catabolism are known and depicted in Fig. 15.1. Hereditary tyrosinaemia type I is characterized by progressive liver disease renal tubular dysfunction with rickets. II (Richner-Hanhart syndrome) presents keratitis blisterous lesions the palms soles. Tyrosinaemia III may be asymptomatic or associated mental retardation. Hawkinsinuria failure to thrive metabolic acidosis infancy. In alkaptonuria symptoms osteoarthritis usually appear at an advanced age. Other inborn errors metabolism include oculocutaneous albinism caused a deficiency melanocyte-specific tyrosinase, converting into DOPA-quinone; hydroxylase, first enzyme synthesis dopamine from tyrosine; aromatic l-amino acid decarboxylase, which also affects tryptophan metabolism. The latter two covered Chap. 26.