what is rate metabolic disorder 4 hydroxy butyric aciduria?

Answer 1

It is an inborn metabolic disorder in which the enzyme succinic semialdehyde dehydrogenase is missing. Therefore, it is also sometimes referred to as Succinic Semialdehyde Dehydrogenase Deficiency (or SSADH Deficiency for short).

Symptoms can vary in individuals, but might include mental impairment, motor and language delays, seizures, lethargy, autism, among other things. It is a genetically inherited disease that is autosomal recessive (both parents must carry one copy of this gene in order for the child to have it). Antiseizure drugs have been used for control of some symptoms.

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