Diagnostic dilemma of patients with methylmalonic aciduria: Experience from a tertiary care centre in Pakistan

Hafsa Majid, Lena Jafri, Aysha Habib Khan, Zeba Zulfiqar Ali, Azeema Jamil, Nasir Yusufzai, Midhat Fatimah, Bushra Afroze

Research output: Contribution to journalArticlepeer-review

5 Citations (Scopus)


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. Conclusion: Screening tests, including urine organic acid, provided valuable clues to the aetiology of methylmalonic acidurias.

Original languageEnglish
Pages (from-to)510-514
Number of pages5
JournalJournal of the Pakistan Medical Association
Issue number4
Publication statusPublished - Apr 2018


  • Cobalamin related remethylation disorders
  • Methylmalonic aciduria
  • Methylmalonyl-CoA mutase deficiency
  • Pakistan
  • Vitamin B 12 deficiency


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