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Clinical Cases
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RETINAL DYSTROPHIES AND SYNDROMES

LCHAD Deficiency

LCHAD Deficiency - Start  
LCHAD Deficiency - End  

LCHAD (Long-chain 3 hyroxyacyl CoA Dehydrogenase) deficiency is a rare metabolic disease caused by an enzyme defect in the beta-oxidation cycle. LCHAD deficiency is inherited as a recessive genetic condition. This results in an inability of the body to break down (metabolize) fatty acids and convert them to energy.

Initial signs and symptoms of this disorder occur during infancy or early childhood and can include feeding difficulties, lethargy, hypoglycemia, hypotonia, liver problems, and retinal abnormalities. Individuals with LCHAD deficiency are also at risk for serious heart problems, breathing difficulties, coma, and sudden death.

The ocular fundus shows atrophy of the retinal pigment epithelium and these often look like grains of black pepper at early stage of the disease.

Differential Diagnosis

  • Reye Syndrome
 
Clinical Cases 105 0