Aminoacidopathies And Organic Acidopathies

Neonatal Disorders MAPLE SYRUP URINE DISEASE

Pathogenesis and Pathophysiology. In 1962, Menkes and colleagues observed an unusual odor, like that of maple syrup, in the urine of four infants who died of progressive encephalopathy in the first few weeks of life (..Fig, 31-1 )[3] Maple syrup urine disease (MSUD) is a disorder of branched-chain amino acid (BCAA)

metabolism, in which the concentrations of L-leucine, L-isoleucine, and L-valine, as well as their corresponding alpha-ketoacids, are elevated

TABLE 31-2 -- DIFFERENT CLINICAL PRESENTATIONS OF AMINO ACID AND ORGANIC ACID DISORDERS ACCORDING TO AGE AND SYMPTOMS NEONATAL DISORDERS WITH DEVASTATING METABOLIC DISEASE

Maple syrup urine disease (MSUD) (branched-chain aminoacidemia) Urea cycle diseases Nonketotic hyperglycinemia

Propionicacidemia, methylmalonicacidemia and isovalericacidemia Certain phenotypes of 3-hydroxy-3-methylglutaryl-CoA lyase deficiency Holocarboxylase synthetase deficiency

Pyruvate dehydrogenase and pyruvate carboxylase deficiencies Cytochrome-c oxidase deficiency Carnitine/carnitine-acyl translocase deficiency Long-chain acyl-CoA dehydrogenase (LCAD) deficiency

Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) with early neonatal death Multiple acyl-CoA dehydrogenase deficiency Certain phenotypes of 3-methylglutaconicacidurias

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