Clinical Terms for Disord of branched-chain amino-acid metab & fatty-acid metab (E71)
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.
Isovaleryl-CoA Dehydrogenase-. A mitochondrial flavoprotein, this enzyme catalyzes the oxidation of 3-methylbutanoyl-CoA to 3-methylbut-2-enoyl-CoA using FAD as a cofactor. Defects in the enzyme, is associated with isovaleric acidemia (IVA).
Methylmalonic Acid-. A malonic acid derivative which is a vital intermediate in the metabolism of fat and protein. Abnormalities in methylmalonic acid metabolism lead to methylmalonic aciduria. This metabolic disease is attributed to a block in the enzymatic conversion of methylmalonyl CoA to succinyl CoA.
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.
Ruvalcaba-Myhre-Smith Syndrome-. A hereditary disease characterized by multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic anomalies. Facial trichilemmomas and papillomatous papules of the oral mucosa are the most characteristic lesions. Individuals with this syndrome have a high risk of BREAST CANCER; THYROID CANCER; and ENDOMETRIAL CANCER. This syndrome is associated with mutations in the gene for PTEN PHOSPHATASE.
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.
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.
Adrenomyeloneuropathy-. 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).
Endocrine, nutritional and metabolic diseases (E00–E90)
Metabolic disorders (E70-E88)
- E71 - Disord of branched-chain amino-acid metab & fatty-acid metab NON-BILLABLE CODE
- E71.0 - Maple-syrup-urine disease BILLABLE CODE
- E71.1 - Other disorders of branched-chain amino-acid metabolism NON-BILLABLE CODE
- E71.11 - Branched-chain organic acidurias NON-BILLABLE CODE
- E71.110 - Isovaleric acidemia BILLABLE CODE
- E71.111 - 3-methylglutaconic aciduria BILLABLE CODE
- E71.118 - Other branched-chain organic acidurias BILLABLE CODE
- E71.12 - Disorders of propionate metabolism NON-BILLABLE CODE
- E71.120 - Methylmalonic acidemia BILLABLE CODE
- E71.121 - Propionic acidemia BILLABLE CODE
- E71.128 - Other disorders of propionate metabolism BILLABLE CODE
- E71.19 - Other disorders of branched-chain amino-acid metabolism BILLABLE CODE
- E71.2 - Disorder of branched-chain amino-acid metabolism, unsp BILLABLE CODE
- E71.3 - Disorders of fatty-acid metabolism NON-BILLABLE CODE
- E71.30 - Disorder of fatty-acid metabolism, unspecified BILLABLE CODE
- E71.31 - Disorders of fatty-acid oxidation NON-BILLABLE CODE
- E71.310 - Long chain/very long chain acyl CoA dehydrogenase deficiency BILLABLE CODE
- E71.311 - Medium chain acyl CoA dehydrogenase deficiency BILLABLE CODE
- E71.312 - Short chain acyl CoA dehydrogenase deficiency BILLABLE CODE
- E71.313 - Glutaric aciduria type II BILLABLE CODE
- E71.314 - Muscle carnitine palmitoyltransferase deficiency BILLABLE CODE
- E71.318 - Other disorders of fatty-acid oxidation BILLABLE CODE
- E71.32 - Disorders of ketone metabolism BILLABLE CODE
- E71.39 - Other disorders of fatty-acid metabolism BILLABLE CODE
- E71.4 - Disorders of carnitine metabolism NON-BILLABLE CODE
- E71.40 - Disorder of carnitine metabolism, unspecified BILLABLE CODE
- E71.41 - Primary carnitine deficiency BILLABLE CODE
- E71.42 - Carnitine deficiency due to inborn errors of metabolism BILLABLE CODE
- E71.43 - Iatrogenic carnitine deficiency BILLABLE CODE
- E71.44 - Other secondary carnitine deficiency NON-BILLABLE CODE
- E71.440 - Ruvalcaba-Myhre-Smith syndrome BILLABLE CODE
- E71.448 - Other secondary carnitine deficiency BILLABLE CODE
- E71.5 - Peroxisomal disorders NON-BILLABLE CODE
- E71.50 - Peroxisomal disorder, unspecified BILLABLE CODE
- E71.51 - Disorders of peroxisome biogenesis NON-BILLABLE CODE
- E71.510 - Zellweger syndrome BILLABLE CODE
- E71.511 - Neonatal adrenoleukodystrophy BILLABLE CODE
- E71.518 - Other disorders of peroxisome biogenesis BILLABLE CODE
- E71.52 - X-linked adrenoleukodystrophy NON-BILLABLE CODE
- E71.520 - Childhood cerebral X-linked adrenoleukodystrophy BILLABLE CODE
- E71.521 - Adolescent X-linked adrenoleukodystrophy BILLABLE CODE
- E71.522 - Adrenomyeloneuropathy BILLABLE CODE
- E71.528 - Other X-linked adrenoleukodystrophy BILLABLE CODE
- E71.529 - X-linked adrenoleukodystrophy, unspecified type BILLABLE CODE
- E71.53 - Other group 2 peroxisomal disorders BILLABLE CODE
- E71.54 - Other peroxisomal disorders NON-BILLABLE CODE
- E71.540 - Rhizomelic chondrodysplasia punctata BILLABLE CODE
- E71.541 - Zellweger-like syndrome BILLABLE CODE
- E71.542 - Other group 3 peroxisomal disorders BILLABLE CODE
- E71.548 - Other peroxisomal disorders BILLABLE CODE
Disord of branched-chain amino-acid metab & fatty-acid metab (E71)