Peroxisomal Disorders

Gene: HSD17B4

Green List (high evidence)

DBP deficiency has been classified into 3 subtypes depending upon the deficient enzyme activity. Type I is a deficiency of both 2-enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase; type II is a deficiency of hydratase activity alone; and type III is a deficiency of dehydrogenase activity alone. Virtually all patients with types I, II, and III have a severe phenotype characterized by infantile-onset of hypotonia, seizures, and abnormal facial features, and most die before age 2 years. Less severe presentations have been termed type IV deficiency or Perrault syndrome.

Multiple families reported.

Created: 27 Jul 2021, 11:10 p.m. | Last Modified: 27 Jul 2021, 11:10 p.m.

Panel Version: 0.20

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
D-bifunctional protein deficiency, AR (MIM#261515); Perrault syndrome 1, AR (MIM#233400)

Publications

• 27790638