2011-12-11 05:35
Diseases, metabolic disorders, and often even the same text can be caused by non-neurological symptoms due to congenital metabolic disease that primarily affects the nervous system, and a gr… Read More
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Tags:
gamma
gamma glutamyl
gamma glutamyl transpeptidase
acid decarboxylase deficiency
acid decarboxylase
acid
gamma aminobutyric
oxidasea deficiency
unresponsive glutamic acid
dystonia
Disorders of Neurotransmitters
2011-12-10 17:18
Five patients with gamma glutamyl transpeptidase deficiency have been reported or are under investigation. Three of them have CNS involvement, though two siblings have apparently no signs of… Read More
2011-12-10 17:16
The gamma glutamyl cycle involves six and zymes. The biosynthesis of glutathione is catalyzed by gamma glutamyl cysteine synthetase and glutathione synthetase. The break down of the tripepti… Read More
2011-12-10 17:13
Kvittingen et al. first described patients with cerebral atrophy and leukodystrophy with N-acetylaspartic aciduria. It was the merit of Matalon et al and divry et al. to link this disorder w… Read More
2011-12-10 17:09
MAO-A has been identified very recently in five generations of a large Dutch kindred.Clinical Presentation Monoamine Oxidase-A Deficiency Only males were affected. They showed borderline men… Read More
2011-12-10 17:02
Aromatic L-amino acid decarboxylase deficiency was reported in 1990 in one family (male twins). Disorders of Neurotransmitters DiseasesClinical Presentation Aromatic L-Amino Acid Decarboxyla… Read More
2011-12-10 17:00
The following disorders are discussed: dopa-responsive dystonia, aromatic L-amino acid decarboxylase deficiency, and monoamine oxidase A deficiency (MAO-A). Dopamine β-hydroxylase defic… Read More
2011-12-10 16:55
SSADH deficiency was first reported as ᵞ-hydroxybutyric aciduria in 1981. It has been documented in at least 32 patients.Clinical Presentataion Succinic Semialdehyde Dehydrogenase Defi… Read More
2011-12-10 16:52
Gamma aminobutyric acid transminase deficiency was first reported in 1984 in a brother and sister from a Flemish family. No other patients seem to have been described since.Clinical Presenta… Read More
2011-12-10 16:49
Three genetic diseases due to a defect in brain GABA metabolism have been reported : glutamic acid decarboxylase deficiency and two defects in GABA catabolism, GABA transaminase deficiency a… Read More
2011-12-10 16:46
Although there is a large number of (estabileshed and putative) neurotransmitters, the number of known diseases due to hereditary defects in the metabolism of these substances is rather smal… Read More
2011-12-09 12:01
In some classes neuromodulation neurotransmitters regulate diverse populations of neurons central nervous system (one neuron uses different neurotransmitters to connect to multiple neurons)… Read More
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