right<unk>  is caused by mutations in ABCD1, located at Xq28 and demonstrates X-linked recessive inheritance. The gene ABCD1 encodes a peroxisomal membrane transporter which is responsible for transporting very long chain fatty acid substrate into the peroxisomes for degradation. Mutations in this gene that interfere with this process cause this syndrome. Males with an ABCD1 mutation are hemizygous, as they only have a single X chromosome. Female carriers will typically avoid the most severe manifestations of the disease, but often become symptomatic later in life. Although, the detection of an ABCD1 mutation identifies an individual who is affected with a form of<unk> , there is no genotype–phenotype correlation. Within a family, there will often be several different phenotypes, despite the presence of the same causative mutation. In one case, a family with six affected members displayed five different phenotypes. There are no common mutations that cause<unk> , most are private or familial. Almost 600 different mutations have been identified, approximately half are missense mutations, one quarter are frameshifts, with in-frame deletions and splicing defects making up the remainder. The incidence of new mutations in<unk>  (those occurring spontaneously, rather than being inherited from a carrier parent) is estimated at approximately 4.1%, with the possibility that these are due to germline mosaicism.
Adrenoleukodystrophy
Hereditary inclusion body myopathy
Inclusion body myositis
Mitochondrial myopathy
Familial amyloid neuropathy
Familial amyloid polyneuropathy
Charcot–Marie–Tooth disease
Lambert–Eaton myasthenic syndrome