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Article

Expanding the phenotype of hawkinsinuria: new insights from response to N-acetyl-L-cysteine.

Journal of inherited metabolic disease - 1 Nov 2016

Gomez-Ospina Natalia, Scott Anna I, Oh Gia J, Potter Donald, Goel Veena V, Destino Lauren, Baugh Nancy, Enns Gregory M, Niemi Anna-Kaisa, Cowan Tina M

Abstract excerpt

Hawkinsinuria is a rare disorder of tyrosine metabolism that can manifest with metabolic acidosis and growth arrest around the time of weaning off breast milk, typically followed by spontaneous resolution of symptoms around 1 year of age. The urinary metabolites hawkinsin, quinolacetic acid, and pyroglutamic acid can aid in identifying this condition, although their relationship to the clinical manifestations is...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27488560
DOI: 10.1007/s10545-016-9963-8

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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