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Article

Co-existence of phenylketonuria either with maple syrup urine disease or Sandhoff disease in two patients from Iran: emphasizing the role of consanguinity.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Oct 2016

Abiri Maryam, Talebi Saeed, Uitto Jouni, Youssefian Leila, Vahidnezhad Hassan, Shirzad Tina, Salehpour Shadab, Zeinali Sirous

Abstract excerpt

Most inborn errors of metabolism (IEMs) are inherited in an autosomal recessive manner. IEMs are one of the major concerns in Iran due to its extensive consanguineous marriages. Herein, we report two patients with two co-existent IEMs: a girl affected by classic phenylketonuria (PKU) and maple syrup urine disease (MSUD) and a male patient affected with Sandhoff disease and PKU, where Sandhoff disease was...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27682710
DOI: 10.1515/jpem-2016-0096

Genes

PAH
BCKDHB
HEXB

Variants

Provenance

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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