PSEUDO ZELLWEGER - D-BIFUNCTIONAL PROTEIN DEFICIENCY

Question 1

What is  PSEUDO ZELLWEGER -> D-BIFUNCTIONAL PROTEIN DEFICIENCY?

Accepted Answer

very rare
autosomal recessive
mutation in the HSD17B4 gene
the reported biochemical aberrations can no longer be explained by a deficiency of this thiolase ... the true defect in this patient is at the level of d-bifunctional protein (DBP) [Ferdinandusse S et al. 2002]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

D-bifunktionales-Enzym-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 261515

Question 4

Which enzymes are involved?

Accepted Answer

Peroxisomal multifunctional enzyme type 2

Disease	PSEUDO ZELLWEGER -> D-BIFUNCTIONAL PROTEIN DEFICIENCY
Synonym	DBP DEFICIENCY
OMIM	261515 OMIM = Online Mendelian Inheritance of Men
Orphanet	300
Protein (UniProt)	Peroxisomal multifunctional enzyme type 2
Gene locus	5q23.1
ICD	E71.3
Summary	very rare autosomal recessive mutation in the HSD17B4 gene the reported biochemical aberrations can no longer be explained by a deficiency of this thiolase ... the true defect in this patient is at the level of d-bifunctional protein (DBP) [Ferdinandusse S et al. 2002]
Laboratory findings	Pipecolic acid inc (plasma) Very-long-chain fatty acids inc (serum)
Symptoms	dysmorphism early death neurological deterioration onset, childhood onset, infancy onset, neonatal renal cysts seizures