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Nutrición Hospitalaria
versión On-line ISSN 1699-5198versión impresa ISSN 0212-1611
Resumen
BROX-TORRECILLA, Noemi et al. Late-onset methylmalonic acidemia and homocysteinemia. Nutr. Hosp. [online]. 2021, vol.38, n.4, pp.871-875. Epub 20-Sep-2021. ISSN 1699-5198. https://dx.doi.org/10.20960/nh.03623.
Introduction:
cobalamin C (Cbl C) deficiency is the most common defect in intracellular cobalamin metabolism, associated with methylmalonic acidemia and homocystinuria. Its late clinical presentation is heterogeneous and may lead to a diagnostic delay.
Case report:
we report the case of a 45-year-old man with a 20-year history of chronic kidney disease and recently diagnosed spastic paraparesis, both of unknown origin. Metabolic studies revealed elevated levels of homocysteine and methylmalonic acid in the blood and urine. A genetic study confirmed cobalamin C deficiency. Treatment with hydroxocobalamin, betaine, carnitine, and folic acid was started. The patient eventually received a kidney transplant.
Discussion:
early diagnosis and appropriate treatment improve the clinical evolution of patients with Cbl C deficiency. Determination of homocysteine, organic acids, and other amino acids should be included in the differential diagnosis of patients with nephrological-neurological symptoms without a clear etiology.
Palabras clave : Cobalamin C; Methylmalonic acidemia; Hyperhomocysteinemia.