Important

It is possible that the main title of the report Long Chain Acyl CoA Dehydrogenase Deficiency (LCAD) is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

• Acyl-CoA Dehydrogenase Deficiency, Long-Chain
• ACADL
• LCAD Deficiency
• Nonketotic Hypoglycemia Caused by Deficiency of Acyl-CoA Dehydrogenase

Disorder Subdivisions

None

General Discussion

Long-chain acyl-CoA dehydrogenase (LCAD) deficiency is a rare genetic disorder of fatty acid metabolism (i.e., fatty acid oxidation disorder) that is transmitted as an autosomal recessive trait. The disorder is characterized by deficiency of an enzyme needed to break down certain long-chain length fatty acids, resulting in impaired energy production.

Symptoms usually become apparent during the first year of life, with some affected in the first days or weeks after birth (neonatal period). Affected infants typically begin to experience sudden (i.e., acute), usually recurrent symptom episodes provoked by stress, such as with fasting and/or during infection. Episodes may be characterized by low blood sugar levels (hypoglycemia), sudden cessation of breathing and/or the pumping action of the heart, listlessness (lethargy) and coma, and/or other abnormalities. In such cases, hypoglycemia occurs with little or no accumulation of ketone bodies (hypoketotic hypoglycemia). (Ketone bodies are chemical substances normally produced by fatty acid metabolism in the liver.)

Additional characteristic findings may include abnormal thickening (hypertrophy) or stretching and enlargement (dilation) of heart muscle (cardiomyopathy); fatty infiltration and associated enlargement of the liver (hepatomegaly); diminished tone of skeletal (voluntary) muscles (hypotonia); severe muscle weakness; elevated levels of certain organic acids in the urine (dicarboxylic aciduria); and/or other abnormalities.