Disorders

Pseudoneonatal Adrenoleukodystrophy

Synonym(s): Peroxisomal Acyl-CoA Oxidase Deficiency

Gene	Locus	Protein
ACOX1	17q25.1	Peroxisomal acyl-coenzyme A oxidase 1

Laboratory	Test Method	Prenatal	Carrier *
ARUP Laboratories, Biochemical Genetics Laboratory - Salt Lake City, UT, USA	• Analyte
Centogene AG, Rare Disease Company - Rostock, Germany
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany
Kennedy Krieger Institute, Genetics Laboratory, Peroxisomal Disorders Section - Baltimore, MD, USA	• Analyte • Enzyme assay
SA Pathology - Women's and Children's Hospital, National Referral Laboratory - North Adelaide, Australia	• Analyte
University of Amsterdam Academic Medical Center, Laboratory Genetic Metabolic Diseases - Amsterdam, Netherlands	• Analyte • Enzyme assay

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.