PEROXISOME BIOGENESIS DISORDER 3A (PBD3A)

Question 1

What is  PEROXISOME BIOGENESIS DISORDER 3A (PBD3A)?

Accepted Answer

rare
autosomal recessive
mutation in the PEX12 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Zellweger-Syndrom; Zerebro-hepato-renales Syndrom; PBD3A

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 614859

Question 4

Which enzymes are involved?

Accepted Answer

Peroxisome assembly protein 12

Disease	PEROXISOME BIOGENESIS DISORDER 3A (PBD3A)
OMIM	614859 OMIM = Online Mendelian Inheritance of Men
Orphanet	912
Protein (UniProt)	Peroxisome assembly protein 12
Gene locus	17q12
ICD	Q87.8
Summary	rare autosomal recessive mutation in the PEX12 gene
Laboratory findings	Pipecolic acid inc (serum) Pipecolic acid inc (urine) Very-long-chain fatty acids inc (serum)
Symptoms	areflexia high forehead hypotonia low set ears onset, childhood onset, infancy onset, neonatal polycystic kidneys seizures