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Article

Co-existence of phenylketonuria and Fabry disease on a 3 year-old boy: case report.

BMC pediatrics - 17 May 2010

Concolino Daniela, Rapsomaniki Maria, Disabella Eliana, Sestito Simona, Pascale Maria G, Moricca Maria T, Bonapace Giuseppe, Arbustini Elisea, Strisciuglio Pietro

Abstract excerpt

BACKGROUND: The co-existence of two genetically distinct metabolic disorders in the same patient has rarely been reported. Phenylketonuria (PKU) is an inborn error of the metabolism resulting from a phenylalanine hydroxylase deficiency. Fabry disease (FD) is an X-linked lysosomal storage disorder...

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Identifiers

PMID: 20478016
DOI: 10.1186/1471-2431-10-32
PMCID: PMC2885380

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20478016-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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