CblC Type Methylmalonic Aciduria with a Novel Homozygous Mutation: A Case Report (Case Report)

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Sunil Joghee; Pradeep Kumar; Suja Mariam; Siddartha Buddhavarapu

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Paper Information

Journal: Journal of Pediatric Perspectives Year:2018 | Volume:6 | Issue:9 (57) Page(s): 8275-8280

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Title

CblC Type Methylmalonic Aciduria with a Novel Homozygous Mutation: A Case Report (Case Report)

Author(s)

Sunil Joghee | Pradeep Kumar | Suja Mariam | Siddartha Buddhavarapu | Issue Writer Certificate

Keywords

Cobalamin metabolism

India

MMACHC gene

Methylmalonic academia

Abstract

Background Combined Methylmalonic Aciduria (MMA), and homocystinuria CblC type is the most common inborn error of Cobalamin metabolism with 77 mutations identified till date in the MMACHC gene. The disease has early and late presentations with varied clinical features. Case report A pair of preterm monochorionic twins was born to non-consanguineous parents with history of 2 previous infant deaths with suspected MMA. The twins became symptomatic in second week with severe neutropenia, thrombocytopenia, progressive encephalopathy and eczema without anemia, metabolic acidosis or hyperammonemia. Investigation revealed elevated plasma Complement 3 (C3) acyl carnitine and very high MMA levels in urine. Genetic testing revealed a novel large deletion mutation in chromosome 1 which comprised of the whole MMACHC gene confirming the diagnosis of CblC type of MMA. The mutation was homozygous despite parents being unrelated and was identified in both parents later. Both twins responded transiently to treatment with hydroxycobalamin. Conclusion Large deletion in the MMACHC gene which was identified in a homozygous state in our twins is previously unreported. The phenotypic features are described.

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APA: Copy

Sunil, Joghee, Pradeep, Kumar, Suja, Mariam, & Siddartha, Buddhavarapu. (2018). CblC Type Methylmalonic Aciduria with a Novel Homozygous Mutation: A Case Report (Case Report). INTERNATIONAL JOURNAL OF PEDIATRICS, 6(9 (57)), 8275-8280. SID. https://sid.ir/paper/337584/en

Vancouver: Copy

Sunil Joghee, Pradeep Kumar, Suja Mariam, Siddartha Buddhavarapu. CblC Type Methylmalonic Aciduria with a Novel Homozygous Mutation: A Case Report (Case Report). INTERNATIONAL JOURNAL OF PEDIATRICS[Internet]. 2018;6(9 (57)):8275-8280. Available from: https://sid.ir/paper/337584/en

IEEE: Copy

Joghee Sunil, Kumar Pradeep, Mariam Suja, and Buddhavarapu Siddartha, “CblC Type Methylmalonic Aciduria with a Novel Homozygous Mutation: A Case Report (Case Report),” INTERNATIONAL JOURNAL OF PEDIATRICS, vol. 6, no. 9 (57), pp. 8275–8280, 2018, [Online]. Available: https://sid.ir/paper/337584/en

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