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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Succinic semialdehyde dehydrogenase deficiency


Other Names for this Disease

  • 4-hydroxybutyric aciduria
  • GABA metabolic defect
  • Gamma-hydroxybutyricaciduria
  • SSADH deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

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What are the symptoms of succinic semialdehyde dehydrogenase deficiency?

People with succinic semialdehyde dehydrogenase deficiency (SSADH) typically have developmental delay, especially involving speech development; intellectual disability; and decreased muscle tone (hypotonia) soon after birth. About half of those affected experience seizures, difficulty coordinating movements (ataxia), decreased reflexes, and behavioral problems. The most common behavioral problems associated with this condition are sleep disturbances, hyperactivity, difficulty maintaining attention, and anxiety. Less frequently, affected individuals may have increased aggression, hallucinations, obsessive-compulsive disorder (OCD), and self-injurious behavior, including biting and head banging. People with this condition can also have problems controlling eye movements. Less common features of SSADH include uncontrollable movements of the limbs (choreoathetosis), involuntary tensing of the muscles (dystonia), muscle twitches (myoclonus), and a progressive worsening of ataxia.[1]
Last updated: 9/25/2013

The Human Phenotype Ontology provides the following list of signs and symptoms for Succinic semialdehyde dehydrogenase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Cognitive impairment 90%
Incoordination 90%
Muscular hypotonia 90%
Behavioral abnormality 50%
Seizures 50%
Abnormality of eye movement -
Abnormality of metabolism/homeostasis -
Absence seizures -
Aggressive behavior -
Anxiety -
Ataxia -
Autism -
Autosomal recessive inheritance -
Delayed speech and language development -
EEG abnormality -
Generalized myoclonic seizures -
Generalized tonic-clonic seizures -
Hallucinations -
Hyperactivity -
Hyperkinesis -
Hyporeflexia -
Infantile onset -
Intellectual disability -
Motor delay -
Muscular hypotonia -
Phenotypic variability -
Psychosis -
Self-injurious behavior -
Status epilepticus -

Last updated: 11/3/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Succinic semialdehyde dehydrogenase deficiency. Genetics Home Reference. June 2008; http://ghr.nlm.nih.gov/condition/succinic-semialdehyde-dehydrogenase-deficiency. Accessed 9/25/2013.


Other Names for this Disease
  • 4-hydroxybutyric aciduria
  • GABA metabolic defect
  • Gamma-hydroxybutyricaciduria
  • SSADH deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.