Clinical, Biochemical and Molecular Characterization among Egyptian Children with Methylmalonic acidemia
Mohammad Emam Mohammad Abdelgawad;
Abstract
ABSTRACT
Methylmalonic acidemia (MMA) is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl;vitamin B12) metabolism. Isolated MMA is caused by complete or partial deficiency of the enzyme methyl malonyl-CoA mutase, a defect of its cofactor or deficiency of the enzyme methylmalonyl-CoA epimerase. Onset of the manifestations of MMA ranges from the neonatal period to adulthood. All phenotypes are characterized by periods of relative health and intermittent metabolic decompensation, usually associated with intercurrent infections and stress. Major secondary complications of MMA are intellectual impairment, progressive renal failure, metabolic stroke, dystonia, pancreatitis, growth failure and optic nerve atrophy. Herein, we report the clinical and biochemical characteristics of a 3years old girl with infantile MMA. The molecular identification was confirmed by homozygous missense mutation c.322C>T (p.Arg108Cys) in exon 2 of the methyl malonyl-CoA mutase (MUT) gene. Interestingly, the patient had optic nerve dysfunction with bilateral normal fundi. To the best of our knowledge, this is the first report of an Egyptian girl with MMA and abnormal visual evoked potential (VEP) with normal fundus. This report highlights the importance of early ophthalmological evaluation using VEP to such children to guard against serious and catastrophic optic nerve atrophy and complete blindness.
Methylmalonic acidemia (MMA) is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl;vitamin B12) metabolism. Isolated MMA is caused by complete or partial deficiency of the enzyme methyl malonyl-CoA mutase, a defect of its cofactor or deficiency of the enzyme methylmalonyl-CoA epimerase. Onset of the manifestations of MMA ranges from the neonatal period to adulthood. All phenotypes are characterized by periods of relative health and intermittent metabolic decompensation, usually associated with intercurrent infections and stress. Major secondary complications of MMA are intellectual impairment, progressive renal failure, metabolic stroke, dystonia, pancreatitis, growth failure and optic nerve atrophy. Herein, we report the clinical and biochemical characteristics of a 3years old girl with infantile MMA. The molecular identification was confirmed by homozygous missense mutation c.322C>T (p.Arg108Cys) in exon 2 of the methyl malonyl-CoA mutase (MUT) gene. Interestingly, the patient had optic nerve dysfunction with bilateral normal fundi. To the best of our knowledge, this is the first report of an Egyptian girl with MMA and abnormal visual evoked potential (VEP) with normal fundus. This report highlights the importance of early ophthalmological evaluation using VEP to such children to guard against serious and catastrophic optic nerve atrophy and complete blindness.
Other data
| Title | Clinical, Biochemical and Molecular Characterization among Egyptian Children with Methylmalonic acidemia | Other Titles | الخصائص الأكلينيكية والكيميائية والجزيئية للأطفال المصريين الذين يعانون من ارتفاع حمض الميثايل مالونك في الدم | Authors | Mohammad Emam Mohammad Abdelgawad | Issue Date | 2019 |
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