PEROXISOME BIOGENESIS DISORDER 4B (PBD4B)

Question 1

What is  PEROXISOME BIOGENESIS DISORDER 4B (PBD4B)?

Accepted Answer

very rare

autosomal recessive

autosomal dominant

mutation in the PEX6 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 614863

Question 3

Which enzymes are involved?

Accepted Answer

Peroxisome assembly factor 2

Disease	PEROXISOME BIOGENESIS DISORDER 4B (PBD4B)
OMIM	614863 OMIM = Online Mendelian Inheritance of Men
Orphanet	44
Protein (UniProt)	Peroxisome assembly factor 2
Gene locus	6p21.1
ICD	E71.3
Summary	very rare autosomal recessive autosomal dominant mutation in the PEX6 gene
Laboratory findings	Albumin dec (serum) Protein inc (cerebrospinal fluid) Very-long-chain fatty acids inc (serum)
Symptoms	ataxia developmental delay fever gait disturbance growth retardation, poor growth hearing defect, deafness hepatomegaly (large liver) hypertelorism hypotonia intellectual disability/intellectual developmental disorder liver involvement or dysfunction nystagmus onset, infancy optic atrophy retinitis pigmentosa seizures urolithiasis, nephrolithiasis, kidney stones white matter changes, abnormalities