ACIDURIA GLUTARICA PDF
Glutaric acidemia type 1 is an inherited disorder in which the body is unable to completely break down the amino acids lysine, hydroxylysine and tryptophan. La aciduria glutárica tipo I es una enfermedad neurometabólica, de herencia autosómico recesiva (1 caso/ ), caracterizada por discinesia y distonía. Glutaric acidemia I is an autosomal recessive metabolic disorder characterized by gliosis and neuronal loss in the basal ganglia and a progressive movement.
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Pathologic examination reveals striatal degeneration of the caudate and putamen nucleus and biochemical analysis shows glutaryl CoA dehydrogenase deficiency.
Currently, the disease glutaricq considered untreatable since there are usually irreversible lesions in the central nervous system at diagnosis. However, treatment can be provided to presymptomatic children and usually to the siblings of patients with this diagnosis.
We present the case of a month-old boy, with macrocephaly and minimal neurologic manifestations at diagnosis, which were attributed to his semivegetarian diet. A dietary regimen and ackduria supplementation halted and even improved symptomatic progression of the disease. We conclude that amino and organic acids in urine should be investigated in all children with progressive macrocephaly of unknown etiology to rule out glutaric aciduria type I.
Vegetarian diet in glutaric aciduria type I. Hospital General Universitario de Albacete. However, treatment can be provided to presymptomatic children and usually to the siblings of patients with this diagnosis.
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We conclude that amino and organic acids in urine should be investigated in all children with progressive macrocephaly of unknown etiology to rule out glutaric aciduria type I. Glutaric aciduria type I. Glutaric aciduria a “new” disorder of amino acid metabolism. Biochem Med, 12pp.
Inherited defi-ciency of glutaril-CoA dehydrogenase activity. Biochem Med, 13pp. Glutaric aciduria type I and related cerebral organic acid disorders. Diagnosis and treatment, 2nd ed, pp. Hum Mol Genet, 4pp. The human glutaryl CoA dehydrogenase gene: Report of intronic sequence and of 13 novel mutations causing glutaric aciduria tipe.
Glutaric aciduria type 1 – Wikipedia
Hum Genet,pp. Glutaric aciduria tipe I: A common cause of episodic encepha-lopthy and spastic paralysis in the Amish of Lancaster country, Pensylvania. Am J Med Gen, 41pp. Organic Acidemias due to defects in L ysine Oxidation: Clinical course, early diagnosis, and prevention of disease in glutaril-CoA dehydrogenase deficiency.
Neuropediatrics, 27pp. Glutaric aciduria type I: J Pediatr,pp. Advances aaciduria unanaswered questions. Report fron an international meeting. Eur J Pediatr,pp. Identification of two cases acidjria glutaric aciduria type I through routine neonatal screening using liquid secondary ionization tandem mass spectrometry abstract. Glutaryl-CoA dehydrogenase mutation in glutaric acidemia type I: Review and report of thirty novel mutations.
Hum Genet, 4 glurarica, pp. Glutaryl-CoA dehydrogenase deficiency in Spain: Evidence of two groups of patients, genetically and biochemically distinct. Pediatric Research, 48pp.
Glutaric aciduria type 1 | Radiology Reference Article |
An Esp Pediatr, 35pp. An Esp Pediatr, 4pp. Megalencephaly in the neonatal period as initial manifestation of glutaric aciduria tipo. Phenotipic variability in glutaric aciduria type I: Report of fourteen cases in five canadian indian kindreds.
J Peddiatr,pp. CT scans of infants with glutaric aciduria type.
Chronic subdural hematoma as an initial manifestation of glutaric aciduria type I. Brain Dev, 15pp. Recomendaciones del Grupo de Trabajo de Obesidad de la Si continua navegando, consideramos que acepta su uso.
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