Methylmalonic Acidemia: An Unusual Cause of Chronic Renal Disease in Adults
Methylmalonic Acidemia: An Unusual Cause of Chronic Renal Disease in Adults作者机构：Department of Medicine Faculty of Medicine Kuwait University Kuwait City Kuwait Department of Nephrology Al-Jahra Hospital Ministry of Health Kuwait City Kuwait
出 版 物：《Open Journal of Nephrology》 (肾脏病（英文）)
年 卷 期：2024年第14卷第3期
页 面：334-339页
学科分类：1002[医学-临床医学] 100214[医学-肿瘤学] 10[医学]
主 题：Methylmalonic Acidemia Kidney Failure Metabolic Acidosis Autosomal Recessive Amino Acid Disorder Kreps Cycle Hyperammonia Vitamin 12 Carnitine
摘 要：Background: Methylmalonic aciduria (MMA) is a genetic disorder of aminoacid metabolism, due to mutations in methylmalonyl-CoA mutase, which leads to the accumulation of methylmalonic acid in body fluids. Patients typically present at the age of 1 month to 1 year with dehydration, renal impairment as well as neurologic manifestations viz. seizure, encephalopathy, strokes and disease in the globus pallidi. The case: a 26-year-old man presented with severe acute on top of chronic renal disease with serum creatinine at 590 umol/L and bilateral 8 cm kidneys with thin and echogenic cortex. He had: (a) hypernatremic dehydration, metabolic acidosis and high ammonia level with (b) a history of multiple similar attacks since the age of 8 months. Diagnosis of MMA was confirmed by high serum and urine enzymatic levels as well as genetic testing. His initial management included support with replacements of fluids, electrolytes, and bicarbonates as well as intravenous dextrose, vitamin B12 and broad-spectrum antibiotic (Meropenem) for his chest infection. Subsequently, he received 1) CARBAGLU (carglumic acid) for 7 days to lower his ammonia level to Conclusion: Untreated homozygous MMA variants, can achieve adulthood with significant renal disease yet their morbidity and mortality can be ameliorated with diet and specific therapy.
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