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KMID : 0918520180180010013
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Journal of the Korean Society of Inherited Metabolic Disease
2018 Volume.18 No. 1 p.13 ~ p.17
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Pamidronate therapy for a Patient with Methylmalonic acidemia
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Cho Su-Jin
Seo Go-Hun
Kim Yoon-Myung
Kim Gu-Hwan
Yoo Han-Wook
Lee Beom-Hee
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Abstract
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Methylmalonic acidemia is an autosomal recessive disorder caused by complete (mut0) or partial (mut-) deficiency of methylmalonyl-CoA mutase (MUT ) or by defects in the synthesis of adenosylcobalamin (cblA, cblB, cblD variant 2). Long term complications of methylmalonic acidemia include tubulointerstitial nephritis with progressive renal failure, intellectual impairment, pancreatitis, and growth failure. We report a case of methylmalonic acidemia in a girl who diagnosed at 6 days after birth. She has developed recurrent metabolic crises with hyperammonemia and metabolic acidosis. In addition, she suffered from the chronic complications including tubulointerstitial nephritis, electrolyte imbalance associated with renal dysfunction, growth failure and fracture of femur shaft. At the age of 10 years, hypercalcemia and severe osteoporosis were noted, and pamidronate therapy was given for two years, which relieved hypercalcemia and osteoporosis.
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KEYWORD
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Organic aciduria, Methylmalonic aciduria, Osteoporosis, Hypercalcemia, Pamidronate
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