CONDITION REFERENCE
Succinic semialdehyde dehydrogenase deficiency
Information from MedlinePlus Genetics about this condition and how it can be inherited.
About this condition
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.
Inheritance
- Autosomal recessive
A condition can have several forms with different inheritance patterns. Each pattern may apply to a different gene or form of the condition.
Related genes
MedlinePlus lists these genes for this condition. Open a gene page to read any available ClinGen reviews and ClinVar records.
YOUR DNA FILE
What can your DNA file tell you?
Your DNA file only includes the positions your test checked and reported. Consumer DNA kits usually test selected positions. Sequencing files can also leave out positions that were not reported or where the test could not give a result.
A variant missing from your file does not mean you tested negative for it. A ClinVar classification applies to a particular variant and the condition or finding it was reported for. It does not apply to everyone with that gene. An uncertain finding cannot establish a diagnosis.
BioDecode reads supported DNA files on your computer. It cannot fill gaps in your test, diagnose a condition or replace clinical testing.
Sources and dates
The source information on this page last changed on 2026-09-18.
MedlinePlus Source details
Source release: Fri, 18 Sep 2026 05:17:13 GMT
Source publication: 2024-03-06
Source review: 2024-03
SHA-256: fdc8bd614310c12718379cef6569962e5d0e791cecabcc355b53a72816ac263a
About the library sources · Latest validated release · Record 936f7f1056b5