Zellweger syndrome - an autosomal recessive disorder causing hypotonia, seizures, hepatomegaly, and early death
Refsum disease - an autosomal recessive disorder of alpha-oxidation that results in the abnormal metabolization of phytanic acid to pristanic acid. Results in scaly skin, ataxia, cataracts/night blindness, shortening of the 4th toe, and epiphyseal dysplasia.
Adrenoleukodystrophy - an X-linked recessive disorder of beta-oxidation due to mutation in ABCD1 gene and the build-up of VLCFA in adrenal glands, white (leuko) matter of the brain, and testes.
submitted by โshak360(20)
Peroxisome pathologies
Zellweger syndrome - an autosomal recessive disorder causing hypotonia, seizures, hepatomegaly, and early death
Refsum disease - an autosomal recessive disorder of alpha-oxidation that results in the abnormal metabolization of phytanic acid to pristanic acid. Results in scaly skin, ataxia, cataracts/night blindness, shortening of the 4th toe, and epiphyseal dysplasia.
Adrenoleukodystrophy - an X-linked recessive disorder of beta-oxidation due to mutation in ABCD1 gene and the build-up of VLCFA in adrenal glands, white (leuko) matter of the brain, and testes.