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Article

The diagnostic odyssey of a patient with dihydropyrimidinase deficiency: a case report and review of the literature.

Cold Spring Harbor molecular case studies - 1 Dec 2023

Albokhari Daniah, Alharbi Ohood, Blesson Alyssa, Jain Mahim

Abstract excerpt

Dihydropyrimidinase (DHP) deficiency is an autosomal recessive metabolic disorder caused by biallelic pathogenic variants of DPYS Patients with DHP deficiency exhibit a broad spectrum of phenotypes, ranging from severe neurological and gastrointestinal involvement to cases with no apparent symptoms. The biochemical diagnosis of DHP deficiency is based on the detection of a significant amount of dihydropyrimidines...

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Identifiers

PMID: 38199782
DOI: 10.1101/mcs.a006319
PMCID: PMC10815279

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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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