PEROXISOME BIOGENESIS DISORDER 1B (PBD1B, NALD)

Question 1

What is  PEROXISOME BIOGENESIS DISORDER 1B (PBD1B, NALD)?

Accepted Answer

rare
autosomal recessive
mutation in the PEX1 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Adrenoleukodystrophie, neonatale Form; NALD; PBD1B

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 601539

Question 4

Which enzymes are involved?

Accepted Answer

Peroxisome biogenesis factor 1

Disease	PEROXISOME BIOGENESIS DISORDER 1B (PBD1B, NALD)
Synonym	ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE)
OMIM	601539 OMIM = Online Mendelian Inheritance of Men
Orphanet	44
Protein (UniProt)	Peroxisome biogenesis factor 1
Gene locus	7q21.2
ICD	E71.3
Summary	rare autosomal recessive mutation in the PEX1 gene
Laboratory findings	Very-long-chain fatty acids inc (serum)
Symptoms	cirrhosis or fibrosis of liver developmental delay dysmorphism hearing defect, deafness hepatomegaly (large liver) hypotonia leukodystrophy onset, childhood onset, infancy onset, neonatal optic atrophy psychomotor retardation retinitis pigmentosa seizures small mid-face (malar or maxillary hypoplasia)