Disorders of branched-chain amino-acid metabolism and fatty-acid metabolism (E71)
Clinical Information
Adrenoleukodystrophy - An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS).
ATP Binding Cassette Transporter, Subfamily D, Member 1 - ATP-binding cassette transporter that functions in the import of long chain (13-21 carbons) and very long chain fatty acids (> 22 carbons), or their acyl-CoA-derivatives, into PEROXISOMES. Mutations in the ABCD1 gene are associated with the X-linked form of ADRENOLEUKODYSTROPHY.
Homocystinuria - Autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of CYSTATHIONINE BETA-SYNTHASE and associated with elevations of homocysteine in plasma and urine. Clinical features include a tall slender habitus, SCOLIOSIS, arachnodactyly, MUSCLE WEAKNESS, genu varus, thin blond hair, malar flush, lens dislocations, an increased incidence of MENTAL RETARDATION, and a tendency to develop fibrosis of arteries, frequently complicated by CEREBROVASCULAR ACCIDENTS and MYOCARDIAL INFARCTION. (From Adams et al., Principles of Neurology, 6th ed, p979)
Maple Syrup Urine Disease - An autosomal recessive inherited disorder with multiple forms of phenotypic expression, caused by a defect in the oxidative decarboxylation of branched-chain amino acids (AMINO ACIDS, BRANCHED-CHAIN). These metabolites accumulate in body fluids and render a "maple syrup" odor. The disease is divided into classic, intermediate, intermittent, and thiamine responsive subtypes. The classic form presents in the first week of life with ketoacidosis, hypoglycemia, emesis, neonatal seizures, and hypertonia. The intermediate and intermittent forms present in childhood or later with acute episodes of ataxia and vomiting. (From Adams et al., Principles of Neurology, 6th ed, p936)
Peroxisomal Disorders - A heterogeneous group of inherited metabolic disorders marked by absent or dysfunctional PEROXISOMES. Peroxisomal enzymatic abnormalities may be single or multiple. Biosynthetic peroxisomal pathways are compromised, including the ability to synthesize ether lipids and to oxidize long-chain fatty acid precursors. Diseases in this category include ZELLWEGER SYNDROME; INFANTILE REFSUM DISEASE; rhizomelic chondrodysplasia (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC); hyperpipecolic acidemia; neonatal adrenoleukodystrophy; and ADRENOLEUKODYSTROPHY (X-linked). Neurologic dysfunction is a prominent feature of most peroxisomal disorders.
Propionic Acidemia - Autosomal recessive metabolic disorder caused by mutations in PROPIONYL-COA CARBOXYLASE genes that result in dysfunction of branch chain amino acids and of the metabolism of certain fatty acids. Neonatal clinical onset is characterized by severe metabolic acidemia accompanied by hyperammonemia, HYPERGLYCEMIA, lethargy, vomiting, HYPOTONIA; and HEPATOMEGALY. Survivors of the neonatal onset propionic acidemia often show developmental retardation, and intolerance to dietary proteins. Late-onset form of the disease shows mild mental and/or developmental retardation, sometimes without metabolic acidemia.
Zellweger Syndrome - An autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 genes encoding peroxin proteins of the peroxisomal membrane and matrix. Zellweger syndrome is typically seen in the neonatal period with features such as dysmorphic skull; MUSCLE HYPOTONIA; SENSORINEURAL HEARING LOSS; visual compromise; SEIZURES; progressive degeneration of the KIDNEYS and the LIVER. Zellweger-like syndrome refers to phenotypes resembling the neonatal Zellweger syndrome but seen in children or adults with apparently intact peroxisome biogenesis.
Endocrine, nutritional and metabolic diseases (E00–E89)
Metabolic disorders (E70-E88)
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
- E71.2 Disorder of branched-chain amino-acid metabolism, unspecified
E71.3 Disorders of fatty-acid metabolism
- 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
- E71.311 Medium chain acyl CoA dehydrogenase deficiency
- E71.312 Short chain acyl CoA dehydrogenase deficiency
- E71.313 Glutaric aciduria type II
- 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
- E71.40 Disorder of carnitine metabolism, unspecified
- E71.41 Primary carnitine deficiency
- E71.42 Carnitine deficiency due to inborn errors of metabolism
- E71.43 Iatrogenic carnitine deficiency
E71.44 Other secondary carnitine deficiency
- E71.440 Ruvalcaba-Myhre-Smith syndrome
- E71.448 Other secondary carnitine deficiency
E71.5 Peroxisomal disorders
- E71.50 Peroxisomal disorder, unspecified
E71.51 Disorders of peroxisome biogenesis
- E71.510 Zellweger syndrome
- E71.511 Neonatal adrenoleukodystrophy
- 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
- E71.529 X-linked adrenoleukodystrophy, unspecified type
- E71.53 Other group 2 peroxisomal disorders
E71.54 Other peroxisomal disorders
- E71.540 Rhizomelic chondrodysplasia punctata
- E71.541 Zellweger-like syndrome
- E71.542 Other group 3 peroxisomal disorders
- E71.548 Other peroxisomal disorders
Disorders of branched-chain amino-acid metabolism and fatty-acid metabolism (E71)