Author:
Abiri Maryam,Talebi Saeed,Uitto Jouni,Youssefian Leila,Vahidnezhad Hassan,Shirzad Tina,Salehpour Shadab,Zeinali Sirous
Abstract
AbstractMost 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 suspected due to the presence of a cherry-red spot in the eyes at 6 months which is unrelated to PKU. Sequencing of candidate genes in the first patient revealed one novel and three recurrent compound heterozygous mutations of p.Ser231Pro and p.Ala300Ser in the
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology, and Child Health
Reference36 articles.
1. Identification of a novel homozygous mutation (S144I) in a Malay patient with maple syrup urine disease;J Pediatr Endocrinol Metab,2013
2. A new missense mutation in the BCKDHB gene causes the classic form of maple syrup urine disease (MSUD);J Pediatr Endocrinol Metab,2015
3. Allelic heterogeneity in inbred populations: the Saudi experience with Alström syndrome as an illustrative example;Am J Med Genet A,2009
4. Novel missense mutation in the phenylalanine hydroxylase gene leading to complete loss of enzymatic activity;Hum Mutat,1995
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