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Article

Genetic cause and prevalence of hydroxyprolinemia.

Journal of inherited metabolic disease - 1 Sept 2016

Staufner Christian, Haack Tobias B, Feyh Patrik, Gramer Gwendolyn, Raga Deepthi Ediga, Terrile Caterina, Sauer Sven, Okun Jürgen G, Fang-Hoffmann Junmin, Mayatepek Ertan, Prokisch Holger, Hoffmann Georg F, Kölker Stefan

Abstract excerpt

BACKGROUND: Hydroxyprolinemia is an inborn error of amino acid degradation that is considered a non-disease. Known for more than 50 years, its genetic cause and prevalence have remained unclear. In MS/MS newborn screening, the mass spectrum of hydroxyproline cannot be differentiated from isoleucine and leucine causing false positive newborn screening test results for maple syrup urine disease (MSUD). METHODS: We...

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Source

Identifiers

PMID: 27139199
DOI: 10.1007/s10545-016-9940-2

Genes

PRODH2

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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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