1. Diagnostic dilemma of patients with methylmalonic aciduria: Experience from a tertiary care centre in Pakistan.
- Author
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Majid H, Jafri L, Khan AH, Ali ZZ, Jamil A, Yusufzai N, Fatimah M, and Afroze B
- Subjects
- Alanine blood, Amino Acid Metabolism, Inborn Errors blood, Amino Acid Metabolism, Inborn Errors urine, Child, Preschool, Citrates urine, Cross-Sectional Studies, Female, Glycine analogs & derivatives, Glycine blood, Glycine urine, Humans, Infant, Lactic Acid analogs & derivatives, Lactic Acid urine, Male, Methionine blood, Pakistan, Tertiary Care Centers, Urinalysis methods, Valerates urine, Amino Acid Metabolism, Inborn Errors diagnosis, Amino Acid Metabolism, Inborn Errors etiology, Mitochondrial Diseases complications, Vitamin B 12 Deficiency complications
- Abstract
Objective: To determine the frequency of disorders leading to methylmalonic acidurias., Methods: This cross-sectional study was conducted from January 2013 to April 2016 at the Aga Khan University Hospital, Karachi, and comprised patients diagnosed with methylmalonic acidurias based on urine organic acid analysis. Clinical history and biochemical data was collected from the biochemical genetics laboratory requisition forms. Organic acid chromatograms of all the subjects were critically reviewed by a biochemical pathologist and a metabolic physician. For assessing the clinical outcome, medical charts of the patients were reviewed. SPSS 19 was used for data analysis., Results: Of the 1,778 patients 50(2.81%) were detected with methylmalonic acidurias. After excluding patients with non-significant peaks of methylmalonic acidemia, 41(2.31%) were included in the final analysis. Of these, 20(48.7%) were females, while the overall median age was 11.5 months (interquartile range: 6-41.5). On stratification by type of disorders leading to methylmalonic acidurias, 9(22%) had methylmalonic acidemia, 12(29%) had Cobalamin-related remethylation disorders, nonspecific methylmalonic acidurias in 16(39%), while 2(5%) each had succinyl coenzyme A synthetase and Vitamin B12 deficiency. respectively., Conclusions: Screening tests, including urine organic acid, provided valuable clues to the aetiology of methylmalonic acidurias.
- Published
- 2018