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ABNORMAL PATTERNS OF URINE AND SERUM AMINO ACIDS IN METHYLMALONIC ACIDEMIA

1970; Wiley; Volume: 59; Issue: 1 Linguagem: Inglês

10.1111/j.1651-2227.1970.tb15510.x

1651-2227

S Halvorsen, Oddvar Stokke, L. ELDIARN,

Biochemical and Molecular Research

Summary Abnormal patterns of serum and urine amino acids were found in our patient with the recently discovered inborn error Methylmalonic acidemia. The most distinct findings were increased serum and urine concentrations of lysine and glycine. In addition, the serum levels of leucine, isoleucine, valine, threonine and glutamic acid, and the urinary excretion of valine, threonine and ornithine were increased. Both the clinical picture and the amino acid patterns resemble those found in the ketotic form of Hyperglycinemia. Recent studies indicate that hyperglycinemia consists of at least two separate diseases, methylmalonic acidemia and propionic acidemia.