Category: E71 - Disorders of branched-chain amino-acid metabolism and fatty-acid metabolism
Chapter Notes
Section Notes
Disorders of branched-chain amino-acid metabolism and fatty-acid metabolism
Maple-syrup-urine disease
Other disorders of branched-chain amino-acid metabolism
Branched-chain organic acidurias
Isovaleric acidemia
3-methylglutaconic aciduria
Other branched-chain organic acidurias
Disorders of propionate metabolism
Methylmalonic acidemia
Propionic acidemia
Other disorders of propionate metabolism
Hyperleucine-isoleucinemia
Hypervalinemia
Disorder of branched-chain amino-acid metabolism, unspecified
Disorders of fatty-acid metabolism
peroxisomal disorders (E71.5)
Refsum's disease (G60.1)
Schilder's disease (G37.0)
carnitine deficiency due to inborn error of metabolism (E71.42)
Disorder of fatty-acid metabolism, unspecified
Disorders of fatty-acid oxidation
Long chain/very long chain acyl CoA dehydrogenase deficiency
LCAD
VLCAD
Medium chain acyl CoA dehydrogenase deficiency
MCAD
Short chain acyl CoA dehydrogenase deficiency
SCAD
Glutaric aciduria type II
Glutaric aciduria type II A
Glutaric aciduria type II B
Glutaric aciduria type II C
glutaric aciduria (type 1) NOS (E72.3)
Muscle carnitine palmitoyltransferase deficiency
Other disorders of fatty-acid oxidation
Disorders of ketone metabolism
Other disorders of fatty-acid metabolism
Disorders of carnitine metabolism
Muscle carnitine palmitoyltransferase deficiency (E71.314)
Disorder of carnitine metabolism, unspecified
Primary carnitine deficiency
Carnitine deficiency due to inborn errors of metabolism
Code also associated inborn error or metabolism
Iatrogenic carnitine deficiency
Carnitine deficiency due to hemodialysis
Carnitine deficiency due to Valproic acid therapy
Other secondary carnitine deficiency
Ruvalcaba-Myhre-Smith syndrome
Peroxisomal disorders
Peroxisomal disorder, unspecified
Disorders of peroxisome biogenesis
Group 1 peroxisomal disorders
Zellweger syndrome
Neonatal adrenoleukodystrophy
X-linked adrenoleukodystrophy (E71.42-)
Other disorders of peroxisome biogenesis
X-linked adrenoleukodystrophy
Childhood cerebral X-linked adrenoleukodystrophy
Adolescent X-linked adrenoleukodystrophy
Adrenomyeloneuropathy
Other X-linked adrenoleukodystrophy
Addison only phenotype adrenoleukodystrophy
Addison-Schilder adrenoleukodystrophy
X-linked adrenoleukodystrophy, unspecified type
Other group 2 peroxisomal disorders
Other peroxisomal disorders
Rhizomelic chondrodysplasia punctata
chondrodysplasia punctata NOS (Q77.3)
Zellweger-like syndrome
Other group 3 peroxisomal disorders
