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Gene. 2015 Jun 15;564(2):119-24. doi: 10.1016/j.gene.2015.04.019. Epub 2015 Apr 9.

Propionic acidemia in the Arab World.

Author information

1
Department of Health Sciences, Biomedical Program, Qatar University, Doha, Qatar. Electronic address: hatem.zayed@qu.edu.qa.

Abstract

The autosomal recessive disease propionic acidemia (PA) is an inborn error of metabolism with highly variable clinical manifestations, caused by a deficiency of propionyl-CoA carboxylase (PCC) enzyme, due to mutations in either PCCA or PCCB genes, which encode the alpha and beta subunits of the PCC enzyme, respectively. The classical clinical presentation consists of poor feeding, vomiting, metabolic acidosis, hyperammonemia, lethargy, neurological problems, and developmental delay. PA seems to be a prevalent disease in the Arab World. Arab patients with PA seem to have the same classical clinical picture for PA with distinctive associated complications and other diseases. Most of the mutations found in Arab patients seem to be specific to the Arab population, and not observed in other ethnic groups. In this review, I will discuss in details the clinical and molecular profile of Arab patients with PA.

KEYWORDS:

Arabs; Genotype–phenotype correlation; Mutations; PCCA; PCCB; Propionic acidemia

PMID:
25865301
DOI:
10.1016/j.gene.2015.04.019
[Indexed for MEDLINE]

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