RESUMEN
A 5-year-old boy had recurrent vomiting and lethargy with lacticacidemia and ketoacidemia since birth. Lipoamide dehydrogenase deficiency was found in muscle and fibroblasts. Therapy with sodium dichloroacetate, thiamine, and carnitine was associated with reduction of the severity and frequency of the decompensation episodes and near normal plasma lactate levels. At 5 years of age, the patient has normal cognitive function and moderate motor impairment.
Asunto(s)
Acidosis Láctica/metabolismo , Dihidrolipoamida Deshidrogenasa/deficiencia , Cetosis/metabolismo , Acidosis Láctica/complicaciones , Acidosis Láctica/tratamiento farmacológico , Carnitina/uso terapéutico , Ácido Dicloroacético/uso terapéutico , Dihidrolipoamida Deshidrogenasa/metabolismo , Fibroblastos/metabolismo , Humanos , Lactante , Cetosis/complicaciones , Cetosis/tratamiento farmacológico , Lactatos/sangre , Masculino , Trastornos del Movimiento/etiología , Músculos/metabolismo , Tiamina/uso terapéuticoRESUMEN
Hypotonia was the initial symptom in four siblings from a nonconsanguineous Tunisian-Jewish family. Plasma carnitine was severely deficient, and urinary organic acid analysis revealed increased excretion of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine. 3-Methylcrotonyl-coenzyme A carboxylase activity was reduced in skin fibroblasts; pyruvate carboxylase and serum biotinidase activities were normal. We conclude that 3-methylcrotonyl-coenzyme A carboxylase deficiency should be added to the list of metabolic causes of familial hypotonia of childhood.