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ß-Ketothiolase Deficiency
ACAT1 gene
ß-ketothiolase deficiency is an autosomal recessive inborn error of isoleucine and ketone-body metabolism. This disorder is characterized by acute episodes of ketoacidosis and by the excretion of specific organic acids in urine. The attacks may be induced by infections or a high intake of protein. Patients can develop severe life-threatening episodes associated with coma, confusion or lethargy that can lead to developmental delay. The onset is usually in late infancy or childhood and severity of symptoms is variable. A number of patients have been reported with mental retardation or speech problems, however, affected asymptomatic siblings have been also been diagnosed. ß-Ketothiolase deficiency is caused by mutations in the ACAT1 gene that encodes mitochondrial acetoacetyl-CoA thiolase, which is responsible for the cleavage of 2-methylacetoacetyl-CoA in isoleucine metabolism. In three studies of ß-ketothiolase deficiency, mutations were identified in 98% of patients.
Using genomic DNA, bi-directional sequence of coding exons and corresponding intron/exon boundaries of the ACAT1 gene (1-12) is analyzed. If sequencing identifies a mutation on only one allele of the ACAT1 gene, and if clinically indicated, reflex deletion/duplication testing (ExonArrayDx) will be performed at no additional charge to evaluate for a deletion/duplication of one or more exons of this gene. Mutations found in the first person of a family to be tested are confirmed by repeat analysis using sequencing, restriction fragment analysis, or another appropriate method.
Information Sheet, including prices and CPT codes
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options
ACAT, ACETOACETYL-CoA THIOLASE, MITOCHONDRIAL T2 MITOCHONDRIAL ACETOACETYL-CoA THIOLASE, MAT, 2-@METHYL-3-HYDROXYBUTYRIC ACIDEMIA, BETA-KETOTHIOLASE DEFICIENCY, MITOCHONDRIAL ACETOACETYL-CoA THIOLASE DEFICIENCY, T2 DEFICIENCY, 3-@OXOTHIOLASE DEFICIENCY, 3-@KETOTHIOLASE DEFICIENCY, 3-@KTD DEFICIENCY, newborn screening, NBS, tiglylglycine, 2-methyl-2-hydroxybutyrate, 2-methylacetoacetate, ketoacidotic
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