Variants associated with urea cycle disorders in Japanese patients: Nationwide study and literature review.

doi:10.1002/ajmg.a.62199

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Article

Variants associated with urea cycle disorders in Japanese patients: Nationwide study and literature review.

American journal of medical genetics. Part A - 1 Jul 2021

Kido Jun, Matsumoto Shirou, Sugawara Keishin, Sawada Takaaki, Nakamura Kimitoshi

Abstract excerpt

Urea cycle disorders (UCDs) are inherited metabolic diseases that lead to hyperammonemia with variable clinical manifestations. Using data from a nationwide study, we investigated the onset time, gene variants, clinical manifestations, and treatment of patients with UCDs in Japan. Of the 229 patients with UCDs diagnosed and/or treated between January 2000 and March 2018, identified gene variants and clinical...

Topics

Adolescent
Adult
Argininosuccinate Lyase
Argininosuccinate Synthase
Carbamoyl-Phosphate Synthase (Ammonia)
Child
Child, Preschool
Female
Genetic Variation
Humans
Hyperammonemia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Infant

Male

Metabolic Diseases

Ornithine Carbamoyltransferase

Urea Cycle Disorders, Inborn

Young Adult

Source

Open in PubMed

Identifiers

PMID: 33851512
DOI: 10.1002/ajmg.a.62199

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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