REFSUM DISEASE, CLASSIC

Question 1

What is  REFSUM DISEASE, CLASSIC?

Accepted Answer

rare (>200 cases)
autosomal recessive
mutation in the gene encoding phytanoyl-CoA hydroxylase
two genes, PHYH/PAHX (45%) and PEX7, have been identified to cause Refsum disease

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Refsum-Krankheit; Phytansäure-Oxidase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 266500

Question 4

Which enzymes are involved?

Accepted Answer

phytanoyl-CoA dioxygenase, peroxisomal

Disease	REFSUM DISEASE, CLASSIC
Synonym	PHYTANIC ACID OXIDASE DEFICIENCY; PHYTANIC ACID STORAGE DISEASE
OMIM	266500 OMIM = Online Mendelian Inheritance of Men
Orphanet	773
Protein (UniProt)	phytanoyl-CoA dioxygenase, peroxisomal
ExPASy	1.14.11.18
Gene locus	10p13
ICD	G60.1
Summary	rare (>200 cases) autosomal recessive mutation in the gene encoding phytanoyl-CoA hydroxylase two genes, PHYH/PAHX (45%) and PEX7, have been identified to cause Refsum disease
Laboratory findings	Phytanic acid inc (plasma) Phytanic acid oxidation dec (fibroblasts) Protein, total inc (cerebrospinal fluid)
Symptoms	anosmia cardiac involvement, cardiac defects dysmorphism hearing defect, deafness ichthyosis muscle atrophy neuropathy night blindness paresis retinitis pigmentosa sensory disturbances skeletal changes, skeletal abnormalities spinal muscular atrophy ataxia cardiomegaly cardiomyopathy cataract ECG abnormalities [-] heart failure, cardiac failure hyporeflexia muscle weakness neurological deterioration nystagmus onset, adolescent onset, adulthood onset, childhood peripheral neuropathy