Aciduria glutárica tipo I: una encefalopatía metabólica extrapiramidal
| Autor: | Marta Colombo C, Ledia Troncoso A, Mónica Troncoso Sch, Lautaro Badilla O, Fernando Novoa S |
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| Jazyk: | Spanish; Castilian |
| Rok vydání: | 1995 |
| Předmět: |
Coma
Dystonia medicine.medical_specialty enfermedades cerebrales business.industry Glutaric aciduria Caudate nucleus Glutaric acid distonía medicine.disease Surgery chemistry.chemical_compound Atrophy Endocrinology chemistry enfermedades de los núcleos basales Internal medicine Pediatrics Perinatology and Child Health Basal ganglia medicine acidaría glutárica tipo I medicine.symptom business Acidosis |
| Zdroj: | Revista chilena de pediatría v.66 n.5 1995 SciELO Chile CONICYT Chile instacron:CONICYT |
| Popis: | hre e children (tw o girls] age d four, six an tw years with typ I glutaric aciduria ar described. Their develop-men' was norrral until the second half of tne first year of life, when they had acute diarrhea, acidosis, coma andseizures. Afterwards they losf acquired mental ana motor abilities and showed abnormal movements, particularlydystonia. Brain CAT scan and NMRI demostrared in all them signs of frontal, temporal, caudate nucleus andpjtame^'s atrophy. These three children excreted increased amounts of glutaric acid, 3-hydroxiglutaric acid andglutaconic acid, and decreased activity of the enzime glutaryi Coa dehidrogenase was recorded From their culturedfibioblasts, confirming the diagnosis of glutaric aciduria type I.(Key words: basal ganglia, brain diseases, dystonia, glutaric aciduria, type I.] |
| Databáze: | OpenAIRE |
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