Document Detail


Glutaric acidemia Type 1: Outcomes before and after expanded newborn screening.
MedLine Citation:
PMID:  22728054     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Glutaric acidemia type 1 (GA-1) is an autosomal recessive disorder of lysine, hydroxylysine, and tryptophan metabolism. Patients may present with brain atrophy, macrocephaly, and acute dystonia secondary to striatal degeneration typically triggered by an infection, fever, and/or dehydration. This disorder is identified on expanded newborn screening by increased glutarylcarnitine. We evaluated the outcome of 19 patients with GA-1. Ten patients were diagnosed by newborn screening and 9 were diagnosed clinically. DNA testing in 12 patients identified 15 different mutations in the glutaryl-CoA dehydrogenase gene. Plasma glutarylcarnitine and urinary 3-hydroxyglutaric acid were elevated in all patients. However, only 10 of 17 patients who underwent urine organic acid analysis were high excretors of glutaric acid. Levels of glutarylcarnitine in plasma correlated with the urinary excretion of glutaric and 3-hydroxyglutaric acid, but not with clinical outcome. Plasma lysine was also significantly correlated with urinary glutaric acid, but not with urinary 3-hydroxyglutaric acid. Brain magnetic resonance imaging in all patients showed wide Sylvian fissures before treatment, which normalized by 4years of age in treated patients. The occurrence of three adverse outcomes (oral motor function, ambulatory capability, and dystonic movements) was on average reduced by 75% (relative risk 0.25 to 0.28) in patients identified by newborn screening compared to patients diagnosed before newborn screening (Fisher's exact test; p=0.0055 for oral motor function and ambulatory capability; p=0.023 for dystonic movements). Newborn screening is effective in the prevention of complications in patients with GA-1 when coupled with treatment strategies.
Authors:
Krista Viau; Sharon L Ernst; Rena J Vanzo; Lorenzo D Botto; Marzia Pasquali; Nicola Longo
Related Documents :
22398054 - Clinical and radiographic presentation of superior mesenteric vein thrombosis in crohn'...
21625814 - Rheumatoid arthritis and metabolic syndrome.
22786814 - A cross-sectional study of patterns of airway dysfunction, symptoms and morbidity in pr...
21607184 - Leg weakness in a patient with lumbar stenosis and adrenal insufficiency.
21829014 - Is extracellular volume expansion of peritoneal dialysis patients associated with great...
8423044 - Hyperfibrinolysis resulting from clotting activation in patients with different degrees...
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-6-9
Journal Detail:
Title:  Molecular genetics and metabolism     Volume:  -     ISSN:  1096-7206     ISO Abbreviation:  -     Publication Date:  2012 Jun 
Date Detail:
Created Date:  2012-6-25     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9805456     Medline TA:  Mol Genet Metab     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2012 Elsevier Inc. All rights reserved.
Affiliation:
Department of Pediatrics, Division of Medical Genetics, University of Utah, 50 North Medical Drive, 2C412 SOM, Salt Lake City, UT 84132, USA.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Recurrent pancreatitis in ornithine transcarbamylase deficiency.
Next Document:  Inhibition of human gastric carcinoma cell growth in vitro by a polysaccharide from Aster tataricus.