Nota Clínica

Late-onset methylmalonic acidemia and homocysteinemia

Noemí Brox-Torrecilla, Loredana Arhip, María Miguélez-González, Sandra Castellano-Gasch, Ana Contreras-Chicote, María Luisa Rodríguez-Ferrero, Marta Motilla de la Cámara, Clara Serrano-Moreno, Cristina Cuerda

Prepublicado: 2021-06-16

Publicado: 2021-07-23

VOLUMEN 38, NÚM. 4, julio-agosto (2021), PAG. 871-875

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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.

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Bibliografía
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