[Glutaric aciduria type 1: clinical presentations, diagnostics and treatment.].
Glutaric aciduria type I is a rare autosomic recessive neurometabolic disease, which develops in the first year of life and is characterized by progressive extrapyramidal disorders as a result of the basal ganglia damage. We describe first cases of this disease in Russian population. The clinical observations are compared to the literature data. The disease usually develops after infections and features by seizures, vomiting, metabolic acidosis and deprivation of consciousness up to coma. These crises lead to the development of necroses of the basal ganglia that results in dystonias, dyskinesias and choreoatethosis. The secondary complications of the disease are difficulties with feeding, speech delay, chronic aspiration syndrome and severe delay of movement development. Diagnostics of the disease is based on urine and blood tests using methods of tandem mass spectrometry and gas chromatography. Treatment is based on dietary lysine or protein restriction and supplementation with carnitine. The data on the treatment of this disease are presented.
Mikhaĭlova
S V
SV
Kafedra nervnykh bolezneĭ pediatricheskogo fakul'teta Gosudarstvennogo obrazovatel'nogo uchrezhdeniia vysshego professional'nogo obrazovaniia; Rossiĭskiĭ gosudarstvennyĭ meditsinskiĭ universitet Ministerstva zdravookhraneniia RF, Moskva; Rossiĭskaia detskaia klinicheskaia bol'nitsa, Moskva; GU Mediko-geneticheskiĭ nauchnyĭ tsentr, Moskva.
Zakharova
E Iu
EIu
Bobylova
M Iu
MIu
Il'ina
E S
ES
Banin
A V
AV
Rasskazchikova
I V
IV
Baĭdakova
G V
GV
Shekhter
O V
OV
Briusova
I B
IB
Volkova
G I
GI
Petrukhin
A S
AS
D000592:Amino Acid Metabolism, Inborn Errors; D001479:Basal Ganglia; D001928:Brain Diseases, Metabolic; D002331:Carnitine / Q000627:therapeutic use; D050770:Glutaryl-CoA Dehydrogenase; D006801:Humans; D007223:Infant
D050770:Glutaryl-CoA Dehydrogenase; D002331:Carnitine