Group of metabolic diseases that involves the function of peroxisomes.  Many catabolic reactions like the beta oxidation of long chain  fatty acids or the alpha-oxidation of phytanic acid occur in those intracellular organelles.

Three major groups are known:

-        anomalies of the biogenesis of peroxisomes as a result of a mutation of one of the PEX genes: neonatal adrenoleucodystrophy, Zellweger syndrome, infantile Refsum disease, hyperoxaluria type 1, rhizomelic chondrodysplasia punctata type 1 and 5 (see those terms)

-        isolated deficiencies in enzymes contained in the peroxisomes: deficiency in acyl-CoA oxidase type 1, deficiency in bifunctional protein D, deficiency in sterol carrier protein X, deficiciency in phytanoyl-Coa hydroxylase (adult Refsum disease), chondrodysplasia punctata type 2 and 3, acatalasemia, deficiency in beta-cetothiolase

-        defective import of substrates into the peroxisomes: X-linked adrenoleucodystrophy

Anesthetic implications:

according to the specific phenotype of each disease: mental retardation, hypotonia, facial dysmorphism, adrenal failure, convulsions, etc ...

References :

-        Aubourg P.
Maladies peroxysomiales.
In Maladies métaboliques héréditaires, B Chabrol et P de Lonlay, collection Progrès en Pédiatrie, Doin 2011, p 57-67

-        Englbrecht JS, Maas M.
Anesthesia in a child with suspected peroxisomal disorder.
Der Anaesthesist 2017; in press

Updated: December 2017