, often shortened to '''LCHAD deficiency''' is a rare
Genetic Disorder that prevents the body from converting certain
Fat s to energy, particularly during periods of
Fasting . This condition is inherited in an
Autosomal Recessive pattern.
Mutation s in the ''HADHA'' gene lead to inadequate levels of an enzyme called long-chain 3-hydroxyacyl-coenzyme A (
CoA ) dehydrogenase, which is part of a protein complex known as
Mitochondrial Trifunctional Protein . Long-chain
Fatty Acid s from food and body fat cannot be
Metabolized and processed without sufficient levels of this
Enzyme . As a result, these fatty acids are not converted to energy, which can lead to characteristic features of this disorder, such as
Lethargy and
Hypoglycemia . Long-chain fatty acids or partially metabolized fatty acids may build up in tissues and damage the
Liver ,
Heart ,
Retina , and muscles, causing more serious complications.
Typically, initial signs and symptoms of this disorder occur during infancy or early childhood and can include feeding difficulties,
Lethargy , hypoglycemia,
Hypotonia , liver problems, and abnormalities in the
Retina . Muscle pain, a breakdown of muscle tissue, and abnormalities in the
Nervous System that affect arms and legs (
Peripheral Neuropathy ) may occur later in childhood. There is also a risk for complications such as life-threatening heart and breathing problems,
Coma , and sudden unexpected death. Episodes of LCHAD deficiency can be triggered by periods of fasting or by illnesses such as
Viral infections.
