The International Journal of Romanian Society of Endocrinology / Registered in 1938

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Acta Endocrinologica(Bucharest) is live in PubMed Central

April - June 2020, Volume 16, Issue 2
Case Report

Tang D, Chen G, Liu S

Identification of a Novel Mutation in the MMAA Gene in a Chinese Boy with Isolated Methylmalonic Acidemia

Acta Endo (Buc) 2020, 16 (2): 242-244
doi: 10.4183/aeb.2020.242

Background. Isolated methylmalonic acidemia refers to a group of inborn errors of metabolism characterized by elevated methylmalonic acid concentrations in the blood and urine. It occurs in approximately one to three out of every 100 thousand Chinese newborns. Mutations in the MMAA gene cause isolated methylmalonic acidemia. Case presentation. A 13-month-old boy was diagnosed with isolated methylmalonic acidemia. We identified two mutations in the MMAA gene in this case: c.491G>A and c.650T>A. The c.491G>A is a novel mutation in the MMAA gene. The boy is a heterozygous carrier of both mutations. The boy was treated with intravenous sodium benzoate and fluids. His sensorium gradually improved and he recovered from the acute illness. Other family members are heterozygous carriers of either mutations but with no symptoms. Conclusions. We identified a novel c.491G>A mutation in the MMAA gene. Heterozygous carriers of both c.491G>A and c.650T>A mutations are associated with isolated methylmalonic acidemia.

Keywords: Isolated Methylmalonic Acidemia, Methylmalonyl-CoA Mutase, MMAA.

Correspondence: Dongling Tang MD, Renmin Hospital of Wuhan University, Wuhan, Hubei, 430060, China, E-mail: