Abstract
Five inherited disorders of tyrosine catabolism are known and depicted in Fig. 15.1. Hereditary tyrosinaemia type I is characterized by progressive liver disease and renal tubular dysfunction with rickets. Hereditary tyrosinaemia type II (Richner-Hanhart syndrome) presents with keratitis and blisterous lesions of the palms and soles. Tyrosinaemia type III may be asymptomatic or associated with mental retardation. Hawkinsinuria may be asymptomatic or presents with failure to thrive and metabolic acidosis in infancy. In alkaptonuria symptoms of osteoarthritis usually appear at an advanced age. Other inborn errors of tyrosine metabolism include oculocutaneous albinism caused by a deficiency of melanocyte-specific tyrosinase, converting tyrosine into DOPA-quinone; the deficiency of tyrosine hydroxylase, the first enzyme in the synthesis of dopamine from tyrosine; and the deficiency of aromatic l-amino acid decarboxylase, which also affects tryptophan metabolism. The latter two disorders are covered in Chap. 26.
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Kvittingen, E.A., Holme, E. (2000). Disorders of Tyrosine Metabolism. In: Fernandes, J., Saudubray, JM., Van den Berghe, G. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-04285-4_15
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DOI: https://doi.org/10.1007/978-3-662-04285-4_15
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