Succinic Semialdehyde Dehydrogenase Deficiency
Succinic Semialdehyde Dehydrogenase Deficiency 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.
Succinic Semialdehyde Dehydrogenase Deficiency 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.
Succinic Semialdehyde Dehydrogenase Deficiency 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.
Succinic Semialdehyde Dehydrogenase Deficiency 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.
Succinic Semialdehyde Dehydrogenase Deficiency Treatment
A diagnosis of SSADH deficiency is done based upon urine organic profiling or blood amino acid analysis.