Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

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Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
Autorecessive.svg
Long-chain 3-hydroxyacyl-coenzyme; A dehydrogenase deficiency has an autosomal recessive pattern of inheritance.
Classification and external resources
ICD-9-CM 277.85
OMIM 600890
eMedicine ped/1284

Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency, often shortened to LCHAD deficiency, is a rare autosomal recessive fatty acid oxidation disorder[1] that prevents the body from converting certain fats into energy. This can become life-threatening, particularly during periods of fasting.[citation needed]

Schematic demonstrating mitochondrial fatty acid beta-oxidation and effects of LCHAD deficiency

Symptoms[edit]

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.

Genetics[edit]

Mutations 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 acids 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.

Diagnosis[edit]

Treatment[edit]

Prognosis[edit]

A 2001 study followed up on 50 patients. Of these 38% died in childhood while the rest suffered from problems with morbidity.[2]

See also[edit]

References[edit]

  1. ^ Reference, Genetics Home. "LCHAD deficiency". Genetics Home Reference. Retrieved 2017-02-27. 
  2. ^ Boer, Margarethe E. J. den; Wanders, Ronald J. A.; Morris, Andrew A. M.; IJlst, Lodewijk; Heymans, Hugo S. A.; Wijburg, Frits A. (2002-01-01). "Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency: Clinical Presentation and Follow-Up of 50 Patients". Pediatrics. 109 (1): 99–104. ISSN 0031-4005. PMID 11773547. doi:10.1542/peds.109.1.99. 

External links[edit]