Current status of primary hyperoxaluria type 1 in Japan.

ABSTRACT: Primary hyperoxaluria (PH) is a rare autosomal recessive disorder characterized by an abnormal increase in urinary oxalate excretion. Primary hyperoxaluria type 1 (PH1), the most common PH subtype, is caused by a deficiency of the liver-specific enzyme alanine:glyoxylate aminotransferase, which is localized to peroxisomes. In Japan, the status of PH1 has not been studied in two decades, and few longitudinal studies of PH1 patients have been conducted worldwide. This study aims to analyze the present situation regarding PH1 in Japan. We conducted a literature review of PH1 cases reported in Japan between 2003 and 2023. Twenty patients were diagnosed with PH1 during the study period, including 7 males, 12 females, and 1 patient with an unspecified sex. The median ages at symptom onset and di

SUBMITTER: Ogawa T 

PROVIDER: S-EPMC12811274 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature