Clinical Pediatrics: Open Access
Open Access

Department of Medicine, All India Institute of Medical Science, Hyderabad, India

Publications

• Case Report   
  A Rare Case of Malonyl-CoA Decarboxylase Deficiency with Novel Mutations in the MLYCD Gene in Two Indian Patients and Literature Review
  Author(s): Radha Rama Devi* and Nalinikanth Panigrahi
  
  Malonyl-CoA decarboxylase deficiency causing isolated malonic aciduria is a rare inborn error of metabolism with heterogeneous phenotypic manifestations. The disease can be diagnosed in new-born screening. Early treatment prevents development of cardiomyopathy and intellectual disability. Tandem Mass Spectrometer (TMS) and urine Gas Chromatography Mass Spectrometry (GC-MS) and whole exome sequencing confirms the diagnosis. Results: Two patients from unrelated families were diagnosed with elevated C3DC acyl carnitine and increases excretion of malonic acid in the urine. The concentration of malonic acid in the urine was very high in case 1 as the test was done during acute crisis (423-fold elevation). Case 2 had 11-fold elevation (not in decompensation). No methyl malonic acid was detected in both the cases. Both the patients harbored novel mutat.. View More»
  DOI: 10.35248/2572-0775.23.08.253

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