ArticleFuture neurology2006
Inherited disorders of GABA metabolism.
Article in Future neurology, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
8 citing papers in PubMed.
- Article
- SERS detection of dopamine using metal-chelated Ag nanoshell.RSC advances · 2024Article
- Metabolites as signalling molecules.Nature reviews. Molecular cell biology · 2023Review
- Cell type characterization of spatiotemporal gene co-expression modules in Down syndrome brain.iScience · 2023Article
- Increased GABA+ in People With Migraine, Headache, and Pain Conditions- A Potential Marker of Pain.The journal of pain · 2021Article
- ASIC3-dependent metabolomics profiling of serum and urine in a mouse model of fibromyalgia.Scientific reports · 2019Article
- Defects in GABA metabolism affect selective autophagy pathways and are alleviated by mTOR inhibition.EMBO molecular medicine · 2014Article
- Metabolic Stroke: A Novel Presentation in a Child with Succinic Semialdehyde Dehydrogenase Deficiency.Annals of Indian Academy of NeurologyArticle
Corrections and comments
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Authors and funding
5 authors.
Funding
Abstract
The inherited disorders of γ-amino butyric acid (GABA) metabolism require an increased index of clinical suspicion. The known genetic disorders are GABA-transaminase deficiency, succinic semialdehyde dehydrogenase (SSADH) deficiency and homocarnosinosis. A recent link has also been made between impaired GABA synthesis and nonsyndromic cleft lip, with or without cleft palate. SSADH deficiency is the most commonly occurring of the inherited disorders of neurotransmitters. The disorder has a nonspecific phenotype with myriad neurological and psychiatric manifestations, and usually has a nonprogressive temporal course. Diagnosis is made by the detection of γ-hydroxybutyrate excretion on urine organic acid testing. The most consistent magnetic resonance imaging abnormality is an increased signal in the globus pallidus. Magnetic resonance spectroscopy has demonstrated the first example of increased endogenous GABA in human brain parenchyma in this disorder. GABA-transaminase deficiency and homocarnosinosis appear to be very rare, but require cerebrospinal fluid for detection, thus allowing for the possibility that these entities, as in the other inherited neurotransmitter disorders, are under-recognized.
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Registered trials
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