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1,938 Possible Causes for DEFECT, GABA, METABOLIC

  • Patulous Eustachian Tube

    […] complications of pregnancy, childbirth and the puerperium ( O00-O9A ) congenital malformations, deformations and chromosomal abnormalities ( Q00-Q99 ) endocrine, nutritional and metabolic[] CONCLUSION: Patulous ET seems to be caused by a concave defect in the tubal valve's anterolateral wall.[] ., GABA) combined with the removal of caffeine from the diet could offer a simple strategy to determine if anxiety is the root cause.[]

  • Stupor

    […] state precipitated by the metabolic disorder.[] […] studies showed the presence of a ligand to the central benzodiazepine receptor in plasma and cerebrospinal fluid during the episodes, suggesting a gamma-aminobutyric acid (GABA[] LPI is a rare inherited metabolic disorder due to membrane transport defect of cationic amino acids.[]

  • Carnitine

    Metabolic profiles were obtained using standard newborn techniques on infants born between 23 and 31 completed weeks of gestation.[] ALCAR can provide an acetyl moiety that can be oxidized for energy, used as a precursor for acetylcholine, or incorporated into glutamate, glutamine and GABA, or into lipids[] KEYWORDS: Cardiomyopathy; Carnitine shuttling defects; Fatty acid oxidation defects; Rhabdomyolysis[]

  • Childhood Absence Epilepsy

    * Sequence Homology, Amino Acid Transfection gamma-Aminobutyric Acid/metabolism* Substances DNA, Complementary GABRB3 protein, human Receptors, GABA-A gamma-Aminobutyric Acid[] OBJECTIVE: We investigated interictal EEG activity in patients with childhood absence seizures with the aim of detecting markers of network defects generating "idiopathic"[] In this study, immunofluorescence labeling, inductively coupled plasma-optical emission spectroscopy (ICP-OES), MTT metabolic rate detection and computational modeling were[]

  • Melatonin

    We hypothesise that this loss of response is associated with slow melatonin metabolism.[] These results uncovered the anticancer effect of melatonin and highlighted the critical roles of miR-16-5p-Smad3 pathway in melatonin-induced growth defects of gastric cancers[] Health Canada Natural Product License # 80077322 Augmenting our Extra Gentle magnesium form with melatonin and GABA, this formulation is designed to help people relax, reset[]

  • Propionic Acidemia

    Clinical and biochemical data of patients from 16 metabolic centers in Germany, Austria, and Switzerland were evaluated retrospectively.[] BACKGROUND: Propionic acidemia (PA) is a disorder of intermediary metabolism with defects in the alpha or beta subunits of propionyl CoA carboxylase (PCCA and PCCB respectively[] We conclude that propionate-induced inhibition of GABA transaminase causes accumulation of GABA in the brain, leading to increased extracellular GABA concentration, which[]

  • Methaqualone

    […] activity by the synthetic steroids than they are to simple inhibition of hepatic metabolism.[] Methaqualone was demonstrated to be a positive allosteric modulator (PAM) at human α 1,2,3,5 β 2,3 γ 2S GABA A receptors (GABA A R s ) expressed in Xenopus oocytes, whereas[] These results suggest that a drug-induced defect of blood platelet function may play a role in the bleeding associated with methaqualone toxicity.[]

  • Methylene Blue

    He had a critical metabolic acidosis on presentation with a pH of 6.88, and very rapidly deteriorated into distributive shock refractory to large volume fluid resuscitation[] MB-induced inhibition of GABA response was competitive with respect to GABA.[] Abstract Urinary tract junction obstruction defects are congenital anomalies inducing hydronephrosis and hydroureter.[]

  • Pyruvate Carboxylase Deficiency

    This now includes a chapter on the clinical presentation of metabolic diseases in the older age range, using an analogous structure.[] Other causes of defective pyruvate carboxylation are described, particularly the combined carboxylase defects.[] The gamma-aminobutyric acid (GABA) content was normal in brain. Glutamine concentrations in CSF and plasma were also decreased in the living patients.[]

  • Sideroblastic Anemia

    ALAS2 mutations), a defect in iron-sulfur cluster assembly, iron-sulfur protein precursor release from mitochondria (ABCB7 mutations), or by a defect in intracellular iron metabolism[] Thus, gamma-aminobutyric acid (GABA) was added to K562 cells to competitively inhibit SLC36A1-mediated transport.[] […] encoding erythroid-specific delta-aminolevulinate synthase was localized to the chromosomal region Xp21-Xq21, identifying this gene as the logical candidate for the enzymatic defect[]