Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency (LCHAD DEFICIENCY)

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MedlinePlus Genetics: ⁴² Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting).Signs and symptoms of LCHAD deficiency typically appear during infancy or early childhood and can include feeding difficulties, lack of energy (lethargy), low blood sugar (hypoglycemia), weak muscle tone (hypotonia), liver problems, and abnormalities in the light-sensitive tissue at the back of the eye (retina). Later in childhood, people with this condition may experience muscle pain, breakdown of muscle tissue, and a loss of sensation in their arms and legs (peripheral neuropathy). Individuals with LCHAD deficiency are also at risk for serious heart problems, breathing difficulties, coma, and sudden death.Problems related to LCHAD deficiency can be triggered when the body is under stress, for example during periods of fasting, illnesses such as viral infections, or weather extremes. This disorder is sometimes mistaken for Reye syndrome, a severe disorder that may develop in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections.

MalaCards based summary: Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency, also known as lchad deficiency, is related to reye syndrome and hypoglycemia, and has symptoms including myalgia and weakness. An important gene associated with Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency is HADHA (Hydroxyacyl-CoA Dehydrogenase Trifunctional Multienzyme Complex Subunit Alpha), and among its related pathways/superpathways are Metabolism and Fatty acid metabolism. The drugs Glycerin and (3-Carboxy-2-(R)-Hydroxy-Propyl)-Trimethyl-Ammonium have been mentioned in the context of this disorder. Affiliated tissues include liver, eye and retina, and related phenotypes are photophobia and hypoketotic hypoglycemia

Orphanet ⁵⁸ Acute fatty liver of pregnancy: A rare, severe complication occurring in the third trimester of pregnancy or in early postpartum period bearing a risk for perinatal and maternal mortality and characterized by jaundice, rise of hepatic injuries and evolving to acute liver failure and encephalopathy.

Long chain 3-hydroxyacyl-coa dehydrogenase deficiency: A mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood of hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and, frequently, cardiac involvement with arrhythmias and/or cardiomyopathy.

UniProtKB/Swiss-Prot ⁷³ Long-chain 3-hydroxyl-coa dehydrogenase deficiency: The clinical features are very similar to TFP deficiency. Biochemically, LCHAD deficiency is characterized by reduced long-chain 3-hydroxyl-CoA dehydrogenase activity, while the other enzyme activities of the TFP complex are normal or only slightly reduced.

Maternal acute fatty liver of pregnancy: Severe maternal illness occurring during pregnancies with affected fetuses. This disease is associated with LCHAD deficiency and characterized by sudden unexplained infant death or hypoglycemia and abnormal liver enzymes (Reye-like syndrome).

GARD: ¹⁹ Acute fatty liver of pregnancy (AFLP) is a rare and serious complication of pregnancy. It is characterized by a build-up of fat in the liver, which can lead to liver damage. The cause of AFLP is not well understood, but genetics may play a role. Symptoms generally begin in the third trimester and may include persistent nausea and vomiting, pain in the stomach or upper-right abdomen, malaise, jaundice and headache.

OMIM®: ⁵⁷ Isolated deficiency of long-chain 3-hydroxyl-CoA dehydrogenase (LCHAD) is an autosomal recessive disorder characterized by early-onset cardiomyopathy, hypoglycemia, neuropathy, and pigmentary retinopathy, and sudden death (IJlst et al., 1996). (609016) (Updated 08-Dec-2022)

Wikipedia: ⁷⁵ Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency is a rare autosomal recessive fatty acid... more...

Clinical features from OMIM®:

Search NIH Clinical Center for Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency