E71

Disorders of branched-chain amino-acid metabolism and fatty-acid metabolism

E71.0

Maple-syrup-urine disease

E71.1

Other disorders of branched-chain amino-acid metabolism

E71.11

Branched-chain organic acidurias

E71.110

Isovaleric acidemia

E71.111

3-methylglutaconic aciduria

E71.118

Other branched-chain organic acidurias

E71.12

Disorders of propionate metabolism

E71.120

Methylmalonic acidemia

E71.121

Propionic acidemia

E71.128

Other disorders of propionate metabolism

E71.19

Other disorders of branched-chain amino-acid metabolism

Hyperleucine-isoleucinemia
Hypervalinemia

E71.2

Disorder of branched-chain amino-acid metabolism, unspecified

E71.3

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)

E71.30

Disorder of fatty-acid metabolism, unspecified

E71.31

Disorders of fatty-acid oxidation

E71.310

Long chain/very long chain acyl CoA dehydrogenase deficiency

LCAD
VLCAD

E71.311

Medium chain acyl CoA dehydrogenase deficiency

MCAD

E71.312

Short chain acyl CoA dehydrogenase deficiency

SCAD

E71.313

Glutaric aciduria type II

glutaric aciduria (type 1) NOS (E72.3)

Glutaric aciduria type II A
Glutaric aciduria type II B
Glutaric aciduria type II C

E71.314

Muscle carnitine palmitoyltransferase deficiency

E71.318

Other disorders of fatty-acid oxidation

E71.32

Disorders of ketone metabolism

E71.39

Other disorders of fatty-acid metabolism

E71.4

Disorders of carnitine metabolism

Muscle carnitine palmitoyltransferase deficiency (E71.314)

E71.40

Disorder of carnitine metabolism, unspecified

E71.41

Primary carnitine deficiency

E71.42

Carnitine deficiency due to inborn errors of metabolism

associated inborn error or metabolism

E71.43

Iatrogenic carnitine deficiency

Carnitine deficiency due to hemodialysis
Carnitine deficiency due to Valproic acid therapy

E71.44

Other secondary carnitine deficiency

E71.440

Ruvalcaba-Myhre-Smith syndrome

E71.448

Other secondary carnitine deficiency

E71.5

Peroxisomal disorders

Schilder's disease (G37.0)

E71.50

Peroxisomal disorder, unspecified

E71.51

Disorders of peroxisome biogenesis

Refsum's disease (G60.1)

Group 1 peroxisomal disorders

E71.510

Zellweger syndrome

E71.511

Neonatal adrenoleukodystrophy

X-linked adrenoleukodystrophy (E71.42-)

E71.518

Other disorders of peroxisome biogenesis

E71.52

X-linked adrenoleukodystrophy

E71.520

Childhood cerebral X-linked adrenoleukodystrophy

E71.521

Adolescent X-linked adrenoleukodystrophy

E71.522

Adrenomyeloneuropathy

E71.528

Other X-linked adrenoleukodystrophy

Addison only phenotype adrenoleukodystrophy
Addison-Schilder adrenoleukodystrophy

E71.529

X-linked adrenoleukodystrophy, unspecified type

E71.53

Other group 2 peroxisomal disorders

E71.54

Other peroxisomal disorders

E71.540

Rhizomelic chondrodysplasia punctata

chondrodysplasia punctata NOS (Q77.3)

E71.541

Zellweger-like syndrome

E71.542

Other group 3 peroxisomal disorders

E71.548

Other peroxisomal disorders