Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0917801 (insomnia)
 10,606 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A first Japanese case of glutaric aciduria type I (GA-I) was described. She was a 7-month-old girl presenting with poor head control, irritability and sleeplessness. The profile of urinary organic acids by gas chromatography mass spectrometry (GC/MS) suggesting GA-I were confirmed by no activity of glutaryl-CoA dehydrogenase in the fibroblasts. The cerebral computer tomography (CT) showed marked changes such as large fluid collections on bilateral frontotemporal regions and a slight enlargement of bilateral ventricles. The amounts of urinary glutarate excretion decreased after restriction of lysine and tryptophan in her diet and administration of carnitine improved the carnitine levels in blood and urine, while these were less effective for the neurological symptoms. On the other hand, oral administration of lioresal, an analogue of gamma-aminobutyrate (GABA), cleared her symptoms such as ill temper, irritability and sleeplessness dramatically, and the abnormalities of the CT examinations were not more deteriorative until 2 years of her age at least. The neurological manifestations of GA-I seemed to be affected by the unusual metabolism of GABA in the central nervous system.
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PMID:A case of glutaric aciduria type I with unique abnormalities in the cerebral CT findings. 359 Jan 75

Fatal familial insomnia (FFI) has been exclusively associated with a pathogenic mutation at codon 178 in the PRNP gene coupled with methionine (Met) at codon 129. We now describe a subject with familial Creutzfeldt-Jakob disease, heterozygous for the pathogenic lysine (Lys) mutation at codon 200 and homozygous for Met at codon 129 of the PRNP gene, who was affected by severe insomnia. At autopsy the patient had significant involvement of the thalamus, as previously described in subjects affected by FFI with the codon 178 mutation. This case demonstrates the wide variability of the clinical expressions in patients with the codon 200 mutation, that may include insomnia and thalamic pathology.
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PMID:Fatal insomnia in a case of familial Creutzfeldt-Jakob disease with the codon 200(Lys) mutation. 861 78

Treatment guidelines from the American Academy of Child and Adolescent Psychiatry and the American Academy of Pediatrics state that stimulant medications have the most evidence for safety and efficacy in the treatment of childhood attention deficit hyperactivity disorder (ADHD). Longer-acting stimulants are thus considered as first-line for management of ADHD symptoms. Over the years, concerns about the abuse potential of stimulants have led to the development of alternative formulations of these agents. One such recent development, lisdexamfetamine (LDX) was FDA approved for treating ADHD in children in early 2007 and in adults in early 2008. LDX is a prodrug, which when orally ingested, is converted to l- lysine and active d-amphetamine, which is responsible for its therapeutic activity. This unique formulation may lead to a possible reduction of the abuse potential, by bypassing the first-pass metabolism. In fact, a statistically significant difference for the 'liking' effects on the Drug Questionnaire Response has been reported with intravenous LDX compared to d-amphetamine. LDX appears to have an efficacy and tolerability profile comparable to other extended-release stimulant formulations used to treat ADHD, but reduced potential for abuse-related liking effects when compared to equivalent amounts of immediate-release d-amphetamine. The most common adverse events include decreased appetite, insomnia, upper abdominal pain, headache, irritability, weight loss, and nausea.
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PMID:New and extended-action treatments in the management of ADHD: a critical appraisal of lisdexamfetamine in adults and children. 2052 Jul 40