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Succinic semialdehyde dehydrogenase deficiency

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Dados do National Institutes of Health

Succinic semialdehyde dehydrogenase deficiency : Succinic semialdehyde dehydrogenase deficiency is a disorder that can cause a variety of neurological problems. People with this condition typically have developmental delays, especially in speech development; intellectual disabilities; and decreased muscle tone (hypotonia) soon after birth. Communication problems may improve over time in people with this disorder. About half of people with succinic semialdehyde dehydrogenase deficiency experience seizures, difficulty coordinating movements (ataxia), decreased reflexes (hyporeflexia), and behavioral problems.  The most common behavioral problems associated with this condition are sleep disturbances, hyperactivity, difficulty maintaining attention, and anxiety. Other behavioral and psychiatric features, including aggression and obsessive-compulsive disorder (OCD), tend to develop in adolescence and early adulthood. 
Review Date: 06/03/2024 Updated By:
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