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A New Mutation in a Case of Methyl-Malonic Acidemia

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Author(s): Zohreh Karamizadeh | Forough Saki | Mohammad Hossein Imanieh

Journal: Galen Medical Journal
ISSN 2228-5423

Volume: 2;
Issue: 3;
Start page: 131;
Date: 2013;
Original page

Keywords: Methyl-malonic academia | Mutation | Skin manifestations

ABSTRACT
Dear Editor Methyl-malonic acidemias (MMA) are a group of autosomal recessive disorders caused by diminished activity of methyl-malonyl-CoA mutase (MCM) enzymes. MCM converts methyl-malonyl-CoA to succinyl-CoA, which then can be metabolized in the Krebs cycle. Either the defect in the MCM activity or its cofactor 5’-deoxyadenosylcobalamin (AdoCbl) may lead to accumulation of the methyl-malonic acid.Mutations in the gene encoding MCM result in mut disorders: mut0 defect with complete loss of action and mut− with residual activity of the enzyme. On the other hand, AdoCbl synthesis defects have various clinical subgroups. Among them CblA, CblB, and CblD variant 2, manifest with isolated MMA [1].Signs and symptoms of the MMA may vary from indistinctive ones, such as vomiting, poor sucking, feeding refusal, and weight loss, to developmental delay and failure to thrive. Neurological manifestations may also include abnormal posturing and movements, hypotonia, lethargy, and seizures [2]. Patients with mut0 and CblB defects had shown an earlier onset of symptoms with higher rate of morbidity and mortality [1]. The basic treatment in these kind of cases are a low-protein high-energy diet, and carnitine and vitamin B12 supplementations [2].In this letter we describe a male patient diagnosed with MMA, born from healthy consanguineous Iranian parents, with normal delivery and normal postnatal course. At the age of 28 months he was referred to pediatric endocrinology center of Namazi hospital, Shiraz, Iran, with chief complaint of poor feeding, drowsiness, and tachypnea. At the time of admission, signs of moderate dehydration were obvious as well as erosive erythematous plaques around the mouth, perioral erythema, and bullous skin lesion on the buttock, and also a history of poor weight gain. Laboratory examinations showed high anion gap acidemia, elevated concentrations of propionyl-carnitine (17.12 µmol/L; normal:

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