Tyrosinosis: a new variant.
ABNORMALITIES OF TYROSINE METABOLISM ARE DISCUSSED UNDER FOUR HEADINGS: (1) accumulation of tyrosine and its metabolites secondary to severe liver damage, vitamin C deficiency, etc.; (2) transient neonatal tyrosinemia; (3) hereditary tyrosinosis with hepatorenal dysfunction where elevation of tyrosine and methionine levels in the plasma may be a secondary manifestation of an unknown disease process; and (4) "essential tyrosinemia" or tyrosinosis without hepatorenal dysfunction which may represent a kkrimary fault in the metabolism of tyrosine.A new case of tyrosinosis without hepatorenal dysfunction in a 13-year-old mentally retarded girl is reported. Clinical findings, laboratory investigations and results of dietary management and normalization of the plasma tyrosine level and of urinary metabolites are presented and compared with the features of three similar cases in the liteature. It is suggested that these cases represent "essential tyrosinemia" where there is a primary genetic defect in tyrosine metabolism.
D000293:Adolescent; D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D004035:Diet Therapy; D005260:Female; D006801:Humans; D010375:Pedigree; D013577:Syndrome; D014443:Tyrosine / Q000378:metabolism*
D014443:Tyrosine