Work

Marked reduction of homogentisic acid with nitisinone in a child with alkaptonuria: a case report

Year: 2026

Type: article

Abstract: Alkaptonuria (AKU) is a rare autosomal recessive disorder caused by mutations in the homogentisate 1,2-dioxygenase (HGD) gene, resulting in impaired degradation of tyrosine and phenylalanine and subsequent accumulation of homogentisic acid (HGA). While dark urine may be the only clinical sign in childhood, progressive HGA deposition leads to severe manifestations in adulthood, including arthritis and cardiovascular complications. We report the case of a 10-year-old boy in whom alkaptonuria was diagnosed early and successfully managed with Nitisinone, an inhibitor of 4-hydroxyphenylpyruvate dioxygenase that reduces HGA production. Nitisinone represents a cornerstone of AKU management, though vigilant monitoring for hypertyrosinemia remains essential, especially in children.

Source: BMC Pediatrics

DOI: 10.1186/s12887-026-07436-8

Authors: Hossein Emad Momtaz, Maryam Darabi, Nasibeh Ghalandari

Institution: Hamedan University of Medical Sciences

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,090