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Article

Hereditary tyrosinemia type Ⅰ: newborn screening, diagnosis and treatment.

Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences - 25 Aug 2021

Tang Yue, Kong Yuanyuan

Abstract excerpt

Hereditary tyrosinemia type Ⅰ (HT-1) is a severe autosomal recessive inherited metabolic disease. Due to the deficiency of fumarylacetoacetase hydrolase (FAH), the toxic metabolites are accumulated in the body, resulting in severe liver dysfunction, renal tubular dysfunctions, neurological crises, and the increased risk of hepatocellular carcinoma. Clinical symptoms typically begin at after the birth; the...

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Identifiers

PMID: 34704422
DOI: 10.3724/zdxbyxb-2021-0255
PMCID: PMC8777462

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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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