What is PEROXISOME BIOGENESIS DISORDER 3B (PBD3B)?

rare autosomal recessive mutation in the PEX12 gene

Gibt es eine deutsche Bezeichnung?

Infantiles Refsum-Syndrom; PBD3B

Disease	PEROXISOME BIOGENESIS DISORDER 3B (PBD3B)
Synonym	INFANTILE REFSUMS DISEASE
OMIM	266510 OMIM = Online Mendelian Inheritance of Men
Orphanet	772
Protein (UniProt)	Peroxisome assembly protein 12
Gene locus	17q12
ICD	G60.1
Summary	rare autosomal recessive mutation in the PEX12 gene
Laboratory findings	Alkyl-dihydroxyacetone-phosphate synthase () C26:0 inc (plasma) Peroxisomal 3-oxoacyl-CoA thiolase () Peroxisomal Acyl-CoA oxidase () Peroxisomal bifunctional enzyme () Phytanic acid inc (plasma) Phytanic acid oxidation () Pipecolic acid inc (urine) Pipecolic acid inc (plasma) Very-long-chain fatty acid oxidation () Very-long-chain fatty acids inc (serum)
Symptoms	anosmia defect of deep tendon reflexes dysmorphism EEG abnormalities [-] failure to thrive flat facies (Potter facies) flattened nose hearing defect, deafness hepatomegaly (large liver) hypotonia mental retardation MRI, brain, abnormalities [-] neurological deterioration onset, fetus onset, neonatal osteoporosis peripheral neuropathy Plasmalogens, biosynthesis retinitis pigmentosa