Matches in DBpedia 2015-10 for { <http://dbpedia.org/resource/Succinic_semialdehyde_dehydrogenase_deficiency> ?p ?o }
- Succinic_semialdehyde_dehydrogenase_deficiency abstract "Succinic semialdehyde dehydrogenase deficiency (SSADHD), also known as 4-hydroxybutyric aciduria or gamma-hydroxybutyric aciduria, is a rare autosomal recessive disorder of the degradation pathway of the inhibitory neurotransmitter γ-aminobutyric acid, or GABA. The disorder has been identified in approximately 350 families, with a significant proportion being consanguineous families. The first case was identified in 1981 and published in a Dutch clinical chemistry journal that highlighted a patient that suffered from a number of neurological conditions such as delayed intellectual, motor, speech, and language as the most common manifestations. Later cases reported in the early 1990s began to show that hypotonia, hyporeflexia, seizures, and a nonprogressive ataxia were frequent clinical features as well.SSADH deficiency is caused by an enzyme deficiency in GABA degradation. Under normal conditions, SSADH works with the enzyme GABA transaminase to convert GABA to succinic acid. Succinic acid can then be utilized for energy production via the Krebs cycle. However, because of the deficiency, the final intermediate of the GABA degradation pathway, succinic semialdehyde, accumulates and cannot be oxidized to succinic acid and is therefore reduced to gamma-hydroxybutyric acid (GHB) by gamma-hydroxybutyric dehydrogenase. This causes elevations in GHB and is believed to be the trademark of this disorder and cause for the neurological manifestations seen.".
- Succinic_semialdehyde_dehydrogenase_deficiency omim "271980".
- Succinic_semialdehyde_dehydrogenase_deficiency thumbnail 4-Hydroxybutansäure_-_4-Hydroxybutanoic_acid.svg?width=300.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageExternalLink br.fcgi?book=gene&part=ssadh.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageExternalLink PND_2002.htm.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageExternalLink www.pndassoc.org.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageExternalLink rdbdetail_abstract.html?disname=Succinic%20Semialdehyde%20Dehydrogenase%20Deficiency.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageID "5407179".
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageLength "30191".
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageOutDegree "198".
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageRevisionID "676799913".
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink ALDH5A1.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Acamprosate.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Aldehyde_dehydrogenase.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Allele.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Alleles.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Amino_acid.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Anticonvulsant.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Antioxidant.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Antioxidants.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Ataxia.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Autism_spectrum.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Autosomal.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Autosome.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Axon.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Axons.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Baclofen.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Basal_ganglia.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Bipolar_disorder.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Blood_brain_barrier.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Blood–brain_barrier.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Brainstem.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink CGP-35348.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink CT_scan.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Calcium.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Carbohydrate.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Carbonyl.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Category:Amino_acid_metabolism_disorders.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Category:Autosomal_recessive_disorders.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Category:GHB.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Category:Rare_diseases.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Cell_division.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Cell_signaling.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Central_nervous_system.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Cephalic_disorder.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Cerebellar.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Cerebellum.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Cerebrum.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Chemical_synapse.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Chloride_channel.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Choreoathetosis.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Chromosome_6.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Chromosome_6_(human).
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Citric_acid_cycle.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Clinical_trial.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Consanguinity.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Demyelinating_disease.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Demyelination.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Dentate_nucleus.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Dextromethorphan.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Dominance_(genetics).
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Dopamine.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Edema.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Electroencephalography.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Enzyme.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Epilepsy.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Epileptic_seizure.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Ethosuximide.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Fat.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Fatty_acid.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink File:Autorecessive.svg.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Free_radicals.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink GABA.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink GABA_transaminase.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Gamma-Aminobutyric_acid.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Gamma-Hydroxybutyric_acid.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Gamma-hydroxybutyric_acid.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Gas_chromatography.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Gene.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Globus_pallidus.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Glutamate.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Glutamate-glutamine_cycle.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Glutamate_decarboxylase.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Glutamic_acid.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Glutamic_acid_decarboxylase.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Glutamine.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Glycine.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Harvard_Medical_School.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Human_eye.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Hyperkinesia.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Hyperreflexia.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Hypoglycemia.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Hyporeflexia.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Hypotonia.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Hypoxia_(medical).
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Inborn_error_of_metabolism.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Inborn_errors_of_metabolism.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Intracellular_signaling.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Ketogenic_diet.
- Succinic_semialdehyde_dehydrogenase_deficiency wikiPageWikiLink Ketone.