277.85, disorders of fatty acid oxidation
The ICD-9-CM code 277.85 includes several disorders of fatty acid oxidation, of which VLCADD is one. Also see VLCADD ICD9 ( 55 KB) for codes for related complications.
VLCADD is clinically heterogeneous, with three major phenotypes based on varying degrees of enzyme deficiency. The early onset (infantile) form, associated with nearly complete absence of the enzyme, is characterized by dilated or hypertrophic cardiomyopathy, arrhythmia, hypotonia, hepatomegaly, hypoglycemia, and high morbidity and mortality, usually shortly after birth. The childhood form is milder, with hypoketotic hypoglycemia, similar to MCAD deficiency with increased values of liver function tests and elevated creatine kinase. Symptoms are usually triggered by stress and cardiomyopathy is found rarely. The mildest form is the adult variant, with exercise or fasting-induced rhabdomyolysis, resembling the muscle form of carnitine palmitoyl transferase 2 (CPT2) deficiency. Sudden deaths may occur as a result of cardiac conduction abnormalities in any of the three types.
|Author:||Nicola Longo, MD, PhD - 11/2010|
|Compiled and edited by:||Lynne M Kerr, MD, PhD - 11/2010|
|Content Last Updated:||1/2011|
The authors listed above are responsible for the overall VLCADD Module. Authors contributing to individual pages in the module are listed on those pages.
Andresen BS, Olpin S, Poorthuis BJ, Scholte HR, Vianey-Saban C, Wanders R, Ijlst L, Morris A, Pourfarzam M, Bartlett K, Baumgartner
ER, deKlerk JB, Schroeder LD, Corydon TJ, Lund H, Winter V, Bross P, Bolund L, Gregersen N.
Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.
Am J Hum Genet. 1999;64(2):479-94. PubMed abstract / Full Text