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Trichorrhexis nodosa: An important clue in the diagnosis of citrullinaemia type I

Year: 2025

Type: article

Abstract: Citrullinaemia type I, a urea cycle disorder due to argininosuccinate synthetase 1 deficiency, can present as either an acute neonatal crisis or a milder, late-onset form. We report a rare presentation of citrullinaemia in a 2-year-old male, where trichorrhexis nodosa served as a clinical clue to the underlying inborn error of metabolism. This case emphasises the need for detailed clinical examination and metabolic workup in cases of unexplained neuroregression and encephalopathy.

Source: Karnataka Pediatric Journal

DOI: 10.25259/kpj_34_2025

Authors: Varsha Monica Reddy, Vykuntaraju K. Gowda, Sahana M. Srinivas, Varunvenkat M. Srinivasan

Institution: Indira Gandhi Institute of Child Health

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: hybrid

OpenAlex ID: W4412471820

FWCI:

Cites: 4

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Related to: 10