HADH deficiency
HADH Deficiency HADH deficiency, also known as 3-hydroxyacyl-CoA dehydrogenase deficiency, is a rare metabolic disorder that affects the body's ability to break down certain fatty acids. This condition is part of a group of disorders known as fatty acid oxidation disorders.
Overview[edit | edit source]
HADH deficiency is caused by mutations in the HADH gene, which provides instructions for making an enzyme called 3-hydroxyacyl-CoA dehydrogenase. This enzyme is involved in the breakdown of medium-chain fatty acids, which are an important source of energy, especially during periods of fasting.
Symptoms[edit | edit source]
The symptoms of HADH deficiency can vary widely among affected individuals. Common symptoms include:
- Hypoglycemia (low blood sugar)
- Muscle weakness
- Lethargy
- Seizures
- Developmental delays
Diagnosis[edit | edit source]
Diagnosis of HADH deficiency typically involves a combination of clinical evaluation, biochemical testing, and genetic testing. Biochemical tests may show elevated levels of certain fatty acids in the blood or urine. Genetic testing can confirm mutations in the HADH gene.
Treatment[edit | edit source]
There is currently no cure for HADH deficiency, but treatment focuses on managing symptoms and preventing complications. This may include:
- Dietary management to avoid fasting
- Supplementation with glucose or other carbohydrates during illness or stress
- Regular monitoring of blood sugar levels
Genetics[edit | edit source]
HADH deficiency is inherited in an autosomal recessive pattern, meaning that both copies of the HADH gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Research[edit | edit source]
Research into HADH deficiency is ongoing, with studies focusing on better understanding the condition, improving diagnostic methods, and developing potential treatments. Clinical trials may be available for individuals with HADH deficiency.
See Also[edit | edit source]
External Links[edit | edit source]
NIH genetic and rare disease info[edit source]
HADH deficiency is a rare disease.
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Contributors: Prab R. Tumpati, MD
