Hepatorenal tyrosinemia.
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ABSTRACT:
SUBMITTER: Kitagawa T
PROVIDER: S-EPMC3410490 | biostudies-literature | 2012
REPOSITORIES: biostudies-literature
Publications
Hepatorenal tyrosinemia.
Proceedings of the Japan Academy. Series B, Physical and biological sciences 20120101 5
In 1957 Sakai and Kitagawa in Japan reported the clinical and biochemical findings in a patient with tyrosinemia, tyrosyluria, liver cirrhosis, and renal rickets. Subsequently, reports were published from various countries of other patients with hepatorenal tyrosinemia (HRT). 4-Hydroxyphenylpyruvate dioxygenase deficiency was originally proposed as the cause of HRT. However, in 1977 Lindblad et al. found that succinylacetone, which accumulates in the serum and urine from patients with HRT, inhib ...[more]
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