Pterin-4 alpha-carbinolamine dehydratase deficiency

Pterin-4 alpha-carbinolamine dehydratase deficiency is a rare genetic disorder that affects the metabolism of biopterin, a cofactor required for the synthesis of neurotransmitters such as dopamine and serotonin. Symptoms of this disorder can include developmental delays, intellectual disability, seizures, and behavioral problems. The severity of the disorder can vary greatly from person to person. Treatment options for Pterin-4 alpha-carbinolamine dehydratase deficiency include pterin supplements, dietary changes, and management of symptoms with medications. The condition is rare, and it is a inherited disorder with autosomal recessive pattern, that means both copies of the gene in each cell have mutations. There is no specific cure for the disorder, and the treatment is mainly symptomatic and supportive.

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