Succinic Semialdehyde Dehydrogenase Deficiency

Description

Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare neurometabolic disorder of gamma-aminobutyric acid (GABA) metabolism with a nonspecific clinical presentation (ranging from mild to severe) with the most frequent symptoms being cognitive impairment with prominent deficit in expressive language, hypotonia, ataxia, epilepsy, and behavioral dysregulation.

Clinical Features

Top most frequent phenotypes and symptoms related to Succinic Semialdehyde Dehydrogenase Deficiency

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Strabismus
  • Muscular hypotonia
  • Delayed speech and language development
  • Motor delay

And another 33 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Succinic Semialdehyde Dehydrogenase Deficiency Is also known as ssadh deficiency, 4-hydroxybutyric aciduria, gaba metabolic defect, gamma-hydroxybutyric aciduria.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Succinic Semialdehyde Dehydrogenase Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
ALDH5A1 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ALDH5A1
Specificity
100 %
Genes
100 %
ALDH5A1 Familial Mutation/Variant Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ALDH5A1
Specificity
100 %
Genes
100 %
ALDH5A1 Prenatal Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ALDH5A1
Specificity
100 %
Genes
100 %
ALDH5A1 Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ALDH5A1
Specificity
100 %
Genes
100 %
ALDH5A1 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ALDH5A1
Specificity
100 %
Genes
100 %
Syndromic Autism Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SCN1A, SCN2A, BRAF, SLC2A1, SLC9A6, SMC1A, KDM5C, CDKL5, STXBP1, TBR1, TCF4, MED12, TSC1, TSC2, UBE3A, HDAC8, CNTNAP2, FOXP2, CACNA1C, NSD1 , (...)

View the complete list with 63 more genes
Specificity
2 %
Genes
100 %
Epilepsy/Seizure.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC2A1, SLC6A8, SLC9A6, BTD, SPTAN1, CDKL5, STXBP1, SYN1, TSC1, TSC2, UBE3A, CNTNAP2, CACNA1A, CACNB4, ARHGEF9 , (...)

View the complete list with 78 more genes
Specificity
2 %
Genes
100 %

You can get up to 43 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM MESH ORPHANET Genetic Syndrome Finder

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