Frequency inborn error of mitochondrial function in Mosul and Kurdistan region
the Frequency inborn error of mitochondrial function in Mosul and Kurdistan region
DOI:
https://doi.org/10.31351/vol29iss2pp259-262Keywords:
Keywords: mitochondria, an inborn error of metabolism, carnitine, MosulAbstract
This work aimed to estimate the frequency of mitochondrial inborn errors of metabolism (MIEMs) in patients presenting with family history and IEM-picture who referred for advance IEM assay in Mosul province and Kurdistan region. This study was observational study conducted on 364 cases referred from different general /or private pediatric clinics with unexplained sign and symptoms and suspension of mitochondrial dysfunction. The study included 364 children with an age ranging from 1 month to 1 year. Started from January 2018 to January 2020. All patients referred with their full history review, notes about their clinical examination, and laboratory investigations including blood ammonia, serum lactate/ pyruvate, arterial blood gases. In addition to the standard laboratory-tests (kidney and liver functions, blood glucose, and complete blood picture) carried out in Sorain private Laboratory. The results of this work show that sixteen (4.4%) of cases were positive in the IEM screening test
Received: 22/5 /2020
Accepted: 31/8/2020
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Copyright (c) 2020 Iraqi Journal of Pharmaceutical Sciences ( P-ISSN: 1683 - 3597 , E-ISSN : 2521 - 3512)
This work is licensed under a Creative Commons Attribution 4.0 International License.