Tyrosinemia, Hereditary, Hepatorenal Type/Tyrosinemia type I, tyrosyluria
In 1957 Sakai and Kitagawa (4,5) reported the case of a two-year-old boy with marked hepatosplenomegaly, failure to thrive, and tyrosyluria. His urine contained a large amount of 4-hydroxyphenyllactate (4-HPL) and a small amount of 4-HPP, 4-hydroxyphenylacetate (4-HPA) and tyrosine.
Medes proposed that the tyrosyluria was due to an almost complete absence of 4-HPPD.
Scriver gave a lecture entitled "The phenotypic manifestation of hereditary tyrosinemia and tyrosyluria: a hypothesis".
Tyrosinemia and tyrosyluria are two of the important indicators in the biochemical phenotype of patients with HRT.
Hypertyrosinemia and tyrosyluria are the most common findings, but hypermethioneima and increased excretion of ALA in the urine are occasionally detected, especially in the acute stage.
(1967) Hereditary tyrosinemia and tyrosyluria: clinical report of four patients.
(1967) Clinical and biochemical study of three patients with tyrosyluria. Can.
Some of the major inborn error of metabolism disorders include phenylketonuria, tyrosyluria
, alkaptonuria, melaninuria, maple syrup urine disease, organic acidemias, indicanuria, 5-hydroxyindolacetic aciduria, cystinuria, cystinosis, and homocystinuria (Camp, Francis, & Shropshire, 2003; Strasinger & Lorenzo, 2001).
Tyrosinemia, Hereditary, Hepatorenal Type/ Tyrosinemia type I, tyrosyluria
Bay Village, OH 44140 (440) 899-8887 (440) 401-8887 (urgent calls only) (440) 899-1184 (fax) www.tttsfoundation.org ??email@example.com 1,2,3,4,5,7,6,9 TYROSINEMIA, HEREDITARY, HEPATORENAL TYPE See: Tyrosinemia I TYROSINEMIA I See also: Kidney Disorders; Liver Disorders Groupe Aide aux Enfants Tyrosinemiques du Quebec 3162 rue Granville Jonquiere, QC CAN G7S 2B9 (418) 548-1580 ??firstname.lastname@example.org 1,2, 4,5,9; French materials TYROSYLURIA
See: Tyrosinemia I UREA CYCLE DISORDERS See: Metabolic Disorders National Urea Cycle Disorders Foundation 4841 Hill St.