Succinic Semialdehyde Dehydrogenase Deficiency

Below you will find more information about Succinic Semialdehyde Dehydrogenase Deficiency from Medigest. If you believe that you are suffering from any of the symptoms of Succinic Semialdehyde Dehydrogenase Deficiency it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Succinic Semialdehyde Dehydrogenase Deficiency and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Succinic Semialdehyde Dehydrogenase Deficiency comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.

Definition

Succinic semialdehyde dehydrogenase deficiency (SSADH) is a rare metabolic disorder marked by lack of the enzyme involved in the degradation of GABA, the major inhibitory neurotransmitter in the brain.

Diagnosis

There is presently no known established and universally effective thera- peutic treatment for SSADH deficiency. In the longer term, medical advancements made in gene therapy or stem cell transplantation may provide an avenue to cure SSADH. In the shorter term, several therapies have been tried or are currently being considered.

Treatment

A diagnosis of SSADH deficiency is done based upon urine organic profiling or blood amino acid analysis.

Symptoms and Signs

Some symptoms include: Delayed gross motor development; delayed mental development; delayed fine motor skill development; delayed speech and language development; and hypotonia.

Causes

SSADH deficiency is inherited from the parents as an autosomal recessive trait. In reces- sive disorders, the condition does not arise unless an individual inherits the same defective gene for the same trait from each parent.

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