neonatal adrenoleukodystrophy

Pathology: - accumulation of very long-chain fatty acids Genetics: - associated with defects in EHHADH expression - associated with defects in PEX1, PEX5, PEX10, PEX13, PEX26 Clinical manifestations: - adrenal insufficiency - mental retardation Laboratory: - PEX1 gene mutation

Related

3-OH acyl CoA dehydrogenase peroxisome PEX5 (peroxisomal targeting signal 1 receptor) gene

General

adrenoleukodystrophy peroxisomal biogenesis disorder

Properties

DEFICIENCY: peroxisome 3-OH acyl CoA dehydrogenase

Database Correlations

OMIM correlations MORBIDMAP 600414

References

UniProt :accession Q08426