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Complex heterogeneity phenotypes and genotypes of glutaric aciduria type 1 / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics ; (12): 460-465, 2016.
Article in Chinese | WPRIM | ID: wpr-261209
ABSTRACT
Glutaric aciduria type 1 is a rare autosomal recessive disorder. GCDH gene mutations cause glutaryl-CoA dehydrogenase deficiency and accumulation of glutaric acid and 3-hydroxyglutaric acid, resulting in damage of striatum and other brain nucleus and neurodegeneration. Patients with glutaric aciduria type 1 present with complex heterogeneous phenotypes and genotypes. The symptoms are extremely variable. The ages of the clinical onset of the patients range from the fetus period to adulthood. The patients with mild glutaric aciduria type 1 are almost asymptomatic before onset, however, severe glutaric aciduria type 1 may cause death or disability due to acute encephalopathy. Acute metabolic crisis in patients with underlying glutaric aciduria type 1 is often triggered by febrile illnesses, trauma, hunger, high-protein foods and vaccination during a vulnerable period of brain development in infancy or early childhood. The early-onset patients usually have a poor prognosis. Urinary organic acids analysis, blood acylcarnitines analysis and GCDH study are important for the diagnosis of this disorder. Neonatal screening is essential for the early diagnosis and the improvement of prognosis.
Subject(s)
Full text: Available Index: WPRIM (Western Pacific) Main subject: Phenotype / Prenatal Diagnosis / Prognosis / Therapeutics / Brain Diseases, Metabolic / Neonatal Screening / Diagnosis / Glutaryl-CoA Dehydrogenase / Genetics / Amino Acid Metabolism, Inborn Errors Type of study: Diagnostic study / Prognostic study / Screening study Limits: Humans / Infant, Newborn Language: Chinese Journal: Chinese Journal of Contemporary Pediatrics Year: 2016 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Phenotype / Prenatal Diagnosis / Prognosis / Therapeutics / Brain Diseases, Metabolic / Neonatal Screening / Diagnosis / Glutaryl-CoA Dehydrogenase / Genetics / Amino Acid Metabolism, Inborn Errors Type of study: Diagnostic study / Prognostic study / Screening study Limits: Humans / Infant, Newborn Language: Chinese Journal: Chinese Journal of Contemporary Pediatrics Year: 2016 Type: Article