[A case of cobalamin-dependent methylmalonic acidemia. Biochemical aspects, diagnosis and possible treatment (author's transl)].
A case of methylmalonic acidemia with intermittend homocystinuria is described. Special attention is given to the early symptoms of this inborn error of metabolism, like lethargy, muscular hypotony, poor feeding, ketoacidosis, and recurrent vomiting. Furthermore, the necessary diagnostic steps, the pertinent differential diagnosis (septicemia, duodenal stenosis, other inborn errors of metabolism), and the possible treatment are discussed.
D006712:Homocystinuria / Q000150:complications; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008052:Lipid Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy; D008297:Male; D008314:Malonates / Q000097:blood*; D008764:Methylmalonic Acid / Q000097:blood*; D009123:Muscle Hypotonia / Q000150:complications; D011422:Propionates / Q000378:metabolism*; D014805:Vitamin B 12 / Q000627:therapeutic use; D014839:Vomiting / Q000150:complications
D008314:Malonates; D011422:Propionates; D008764:Methylmalonic Acid; D014805:Vitamin B 12
Eine cobalaminabhängige Methylmalonacidämie. Biochemische Grundlagen, Diagnostik und Therapiemöglichkeiten.