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Succinic Semialdehyde Dehydrogenase Deficiency (SSADH)

Name of disease:

Succinic Semialdehyde Dehydrogenase Deficiency (SSADH)

ICD-10 diagnosis code:

E72.8

Causes:

Succinic semialdehyde dehydrogenase deficiency (SSADH) is a rare inborn error of metablolsim caused by mutations in the ALDH5A1 gene.

Mode of inheritance:

Autosomal recessive

Prevalence:

1 / 1,000,000

Diagnosis:

Physical examination to assess muscle strength Urine organic acid analysis to investigate if any 4-hydroxybutyric acid is present Genetic testing

Age of onset:

New born babies / childhood

Common signs and symptoms:

Developmental delay, especially involving speech development Intellectual disability Decreased muscle tone (hypotonia) Seizures Difficulty coordinating movements (ataxia) Decreased reflexes Involuntary, rapid, rhythmic eye movements (nystagmus) Uncontrollable movements of the limbs and fingers (choreoathetosis) Involuntary tensing of the muscles (dystonia) Muscle twitches (myoclonus) Behavioral problems such as sleep disturbances, hyperactivity, difficulty maintaining attention, aggression, anxiety, etc. Hallucinations Obsessive-compulsive disorder Self-injurious behavior, including hand biting and head banging

Available treatments (medicinal and non-medicinal):

Currently, there is no specific treatment for SSADH. Only the medical issues caused by the condition can be addressed. Usually medications are used to treat seizures, anxiety, aggressiveness, inattention, and hallucinations.

Disease management tips:

Early intervention may be important in ensuring that children with SSADH deficiency reach their potential. Special services that may be beneficial include physical therapy, special remedial education, speech therapy, occupational therapy and other medical, social, and/or vocational services. Genetic counseling is recommended for affected individuals and their families.

References:

https://www.printfriendly.com/p/g/8VWsig https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=22 https://rarediseases.info.nih.gov/diseases/7695/succinic-semialdehyde-dehydrogenase-deficiency https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5509553

Other useful websites:

N/A