CONGENITAL METHYLMALONIC ACIDEMIA: ENZYMATIC EVIDENCE FOR TWO FORMS OF THE DISEASE*
AUTOR(ES)
Morrow, Grant
RESUMO
Methylmalonic acidemia is an inherited metabolic disorder thus far found in children and characterized by the excessive excretion of methylmalonate in the urine. Typically these children exhibit vomiting, lethargy, ketoacidosis, and failure to grow. Many of the patients are mentally retarded and die early in life. Two variants of this disease are known. In one, the administration of vitamin B12 will reverse or prevent these clinical findings, whereas in a second variant vitamin B12 therapy is of no value.
