Prevalence of congenital heart defects among 54 Egyptian children with Maple syrup urine disease

Some amino acids, including branched-chain amino acids, also have been shown to possess a potent signaling function to regulate global growth and metabolism [3]. [...]the impact of amino acid metabolism on embryonic development and human congenital diseases has long been recognized [4]. [...]recent...

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Bibliographic Details
Published in:The Egyptian journal of medical human genetics 2018-01, Vol.19 (1), p.37-41
Main Authors: Kotby, Alyaa A., Al-Fahham, Marwa M., Elabd, Heba Salah A., Zaki, Osama K.
Format: Article
Language:English
Subjects:
Amino acids
Children
Congenital diseases
Congenital heart defects
Defects
Dehydrogenases
Disease
Echocardiography
Heart
Maple syrup urine disease
Metabolism
Mitochondrial DNA
MSUD
Pediatrics
Phosphatase
Pulmonary arteries
Statistical analysis
Studies
Ultrasonic imaging
Urine
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Summary:Some amino acids, including branched-chain amino acids, also have been shown to possess a potent signaling function to regulate global growth and metabolism [3]. [...]the impact of amino acid metabolism on embryonic development and human congenital diseases has long been recognized [4]. [...]recent studies from animal models of MSUD raise concerns about the potential adverse impact of branched –chain amino acid metabolic defects on cardiac development and function [4].2 Subjects and methods This cross-sectional descriptive study involved 54 children with MSUD who were recruited from the Genetics clinic, Pediatric Hospital, Ain Shams University. Unfortunately, there is no reliable data on the prevalence of CHD among Egyptian children due to lack of computer records in most of the hospitals, lack of congenital malformation registry, defective registration of the cause of death, poor coordination between cardiac outpatient clinics at ministry hospitals and pediatric clinics at the private sector; in addition to the absence of autopsy procedures to detect the incidence of CHD among the stillborn [18]. [...]routine screening of MSUD patients by echocardiography is recommended in all cases with MSUD to detect silent cardiac anomalies that may worsen the clinical outcome.Contributions A-Alyaa Amal Kotby: Conceived of the presented idea, supervised the findings and revised the work.
ISSN:1110-8630
2090-2441
DOI:10.1016/j.ejmhg.2017.10.001