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Biotin-responsive Multiple Carboxylase De ciency (MCD)

Author(s)
Hafsa Majid Department of Pathology and Laboratory Medicine, Aga Khan University,Karachi,Pakistan
Sibtain Ahmed Department of Pathology and Laboratory Medicine, Aga Khan University,Karachi,Pakistan
Siraj Muneer Department of Pathology and Laboratory Medicine, Aga Khan University,Karachi,Pakistan
Ruqaiyyah Hamid Department of Pathology and Laboratory Medicine, Aga Khan University,Karachi,Pakistan
Lena Jafri Department of Pathology and Laboratory Medicine, Aga Khan University,Karachi,Pakistan
Aysha Habib Khan Department of Pathology and Laboratory Medicine, Aga Khan University,Karachi,Pakistan
Abstract
This study aimed to determine the clinical spectrum and biochemical ndings on urine organic acids (UOA) in Biotin-responsive multiple carboxylase de ciency (MCD) patients presenting to the biochemical genetics laboratory (BGL). Patients reported as MCD, from January 2013-December 2020 were included. The UOA was analysed by gas chromatography mass spectrometer. Demographic, clinical, and biochemical details were extracted from the BGL history form. Two hundred and two patients were reported to have biotin responsive MCD with 111(55%) males and a median (Q3-Q1) age of 7 months (13-4). Of these 71.7% (n=145) patients presented in infantile period. Parental consanguinity was observed in 80% (n=161) and another 32.6% (n=66) cases grandparents were cousins. The main presenting features were seizures, developmental delay, and lethargy. The common peaks were determined on UOA 3OHIVA, MC and MCC. MCD is not rare in Pakistani population; it is recommended to include this disorder in newborn screening programs.
Publication Details
Page(s) 823-825
DOI DOI not available
Published Journal: Journal of College of Physicians and Surgeons--Pakistan : JCPSP, Volume: 32, Issue: 6, Year: 2022

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Keywords
Pakistan, Organic acids, Amino acids, inborn errors of metabolism, Biotin responsive multiple carboxylase de ciency
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