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Article

In vivo suppressor mutations correct a murine model of hereditary tyrosinemia type I.

Proceedings of the National Academy of Sciences of the United States of America - 12 Oct 1999

Manning K, Al-Dhalimy M, Finegold M, Grompe M

Abstract excerpt

Hereditary tyrosinemia type I and alkaptonuria are disorders of tyrosine catabolism caused by deficiency of fumarylacetoacetate hydrolase (FAH) and homogentisic acid dioxygenase (HGD), respectively. Tyrosinemia is a severe childhood disease that affects the liver and kidneys, but alkaptonuria is a more benign adult disorder in comparison. Because HGD is upstream of FAH in the tyrosine pathway, mice doubly mutant...

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Source

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Identifiers

PMID: 10518553
DOI: 10.1073/pnas.96.21.11928
PMCID: PMC18389

Genes

FAH
HGD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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