Diagnosis can be done both prenatally based on family history and after birth based on clinical suspicion. The primary prenatal diagnosis techniques involve the assessment of amniotic fluid for an abnormal elevation in VLCFAs, and a reduced presence (or in some cases complete absence) of<unk> -CoA<unk>  in fibroblasts. If the causative variants in a family are known, prenatal diagnosis can be performed by molecular testing. After birth, there are a number of diagnostic techniques available for use. A blood sample can be taken, from which the serum levels of VLCFAs and<unk> -CoA<unk>  activity can be assessed. Analysis of VLCFAs is important for the identification of ACOX1 deficiency, if a leukodystrophy has been identified Since the condition is genetic, and is caused by pathogenic variants in ACOX1, it can be confirmed by sequence or copy number analysis. Due to the rarity of this condition, people who have it may not be diagnosed early in their disease progression. As a result,<unk>  may be misdiagnosed as similar conditions such as Usher syndrome and neonatal adrenoleukodystrophy.
Acyl-CoA oxidase deficiency
2,4 Dienoyl-CoA reductase deficiency
3-Methylcrotonyl-CoA carboxylase deficiency
2-Methylbutyryl-CoA dehydrogenase deficiency
Multiple carboxylase deficiency
Carnitine-acylcarnitine translocase deficiency
Pyruvate kinase deficiency
Malonyl-CoA decarboxylase deficiency