MOLECULAR STUDY METHYLGLUTACONIC ACIDEMIA TYPE 1 (AUH) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4023

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	35 days
Information:
3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia. The disorder is very rare with less than 20 cases reported in the literature. Clinical manifestations usually become apparent in the neonatal period or during infancy but the diagnosis may not be made until childhood. The syndrome is inherited as an autosomal recessive trait and is caused by mutations in the AUH gene (chromosome 9). As the clinical picture is variable and nonspecific, diagnosis can be made by assay of 3-methylglutaconyl-CoA hydratase activity in fibroblasts or leukocytes, quantitative analysis of urinary organic acid excretion or, more recently, analysis of bodily fluids by NMR spectroscopy. Patients with 3-MGA type I can be distinguished from those with other forms of 3-MGA (types II, III and IV) by the distinctive pattern of metabolite excretion. Prenatal diagnosis should be possible through detection of high levels of 3-hydroxyisovaleric acid in the amniotic fluid or through enzyme analysis of cultured amniocytes.
Links:
OMIM Entry - # 250950 - 3-METHYLGLUTACONIC ACIDURIA, TYPE I; MGCA1
Orphanet- 3 methylglutaconic aciduria type 1
OMIM Entry - - 600529 - AU-SPECIFIC RNA-BINDING PROTEIN; AUH

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