while it is an inhibitory neurotransmitter, its ability to cross the blood brain barrier is limited. there is a lot of literature that indicates that taurine acts as antagonist at gabaa and gabab receptors which may further enhance its ability to treat patients with ssadh deficiency, but further pharmacological studies are yet to be conducted to see if taurine could serve a therapeutic purpose. taurine has been successfully used in a single case open study in a child with ssadh deficiency; with resolving of brain lesions, and improvement in coordination and gait. ketogenic diet during prolonged periods of fasting, ketone bodies serve as the primary energy source for the brain. in 2006, henderson et al. showed that there is a therapeutic effect of maintaining a ketogenic diet – a diet consisting of high fat/low carbohydrate meals – in children with epilepsy. ketogenic diets have also been shown to have some neuroprotective effects in models of parkinson's disease and hypoxia as well. in a 2007 study conducted at the hospital for sick children in canada, researchers found that a ketogenic diet prolonged the lifespan of aldh5a1-/- mice by greater than 300%, along with the normalization of ataxia and some improvement in various seizure types seen in ssadh deficient murine models. these effects were in conjunction with "...a significant restoration of gabaergic synaptic activity and region-specific restoration of gabaa receptor associated chloride channel binding." ultimately, the data seen in the study indicated that a ketogenic diet may work in its ability to restore gabaergic inhibition. but further studies on murine models need to be conducted, ultimately leading to the possibility of conducting a controlled study on humans afflicted with the disorder. there is speculation that a ketogenic diet may be harmful for humans with ssadh deficiency as it may cause elevated levels of ghb in the bloodstream. other interventions other therapeutic interventions include: ethosuximide and other anticonvulsant drugs ghb receptor antagonist ncs-382 gabaa receptor modulators uridine acamprosate dopaminergic agents dextromethorphan glutamine antioxidants lamotrigine the gaba(b) receptor antagonist, sgs-742, is currently being tested as a potential therapeutic in an nih phase ii clinical trial (nct02019667). research while ssadh deficiency has been studied for nearly 30 years, knowledge of the disorder and its pathophysiology remains unclear. however, the progress that has been made with both murine and human models of the disorder have provided a lot of insights into how the disease manifests itself and what more can be done in terms of therapeutic interventions. much of the current research into ssadh has been led by a dedicated team of physicians and scientists, including phillip l. pearl, md of the boston children's hospital at harvard medical school and k. michael gibson, phd of washington state university college of pharmacy. both have contributed significant efforts to finding appropriate therapies for ssadh deficiency and have specifically spent most of their recent efforts into understanding the efficacy of the ketogenic diet for patients with ssadh deficiency. in addition, a lot of the research that was published in 2007 examined the pathogenesis for the disorder by examining the role of oxidative stress on tissues in various cerebral structures of aldh5a1-/- mice. ultimately, the metabolic pathway of ssadh deficiency is known, but how the enzyme deficiency and accumulation of gaba and ghb contribute to the clinical phenotype is not. for the future however, treatment strategies should focus on both decreasing the total production of ghb and increasing the total concentration of gaba and further assessing whether the effects of these changes influences the neurological manifestations seen in patients afflicted with ssadh deficiency. response to treatment is variable and the long-term and functional outcome is unknown. to provide a basis for improving the understanding of the epidemiology, genotype/phenotype correlation and outcome of these diseases their impact on the quality of life of patients, and for evaluating diagnostic and therapeutic strategies a patient registry was established by the noncommercial international working group on neurotransmitter related disorders (intd). animal models several scientists have developed murine models of ssadh (aldh5a1-/-) by typical gene methodology to create a uniform absence of the ssadh enzyme activity as well as accumulations of ghb and gaba in tissues and physiological fluids. the mice are born at the expected mendelian frequencies for an autosomal recessive disorder. most of the models include distinctive neurological phenotypes and exhibit hypotonia, truncal ataxia, generalized tonic-clonic seizures associated with 100% mortality. the mice uniformly die at 3–4 postnatal weeks. while this model is considered to be more severe than the phenotypes seen in humans, currently, it is the most highly regarded, valid, metabolic model to study potential therapeutic interventions for the disorder. studies have shown that alterations of both the gabaa receptor and the gabab receptor early in the life of the aldh5a1-/- mice can increase levels of ghb and enhance gaba release. besides these effects, it has also been shown that "...a developmental down-regulation of gabaa receptor mediated neurotransmission in aldh5a1-/- mice likely contributes to the progression of generalized convulsive seizures seen in mutant animals." other studies have confirmed the relationship between elevated levels of ghb and map kinase in mutant animals contribute to profound myelin abnormalities.