What is D-BIFUNCTIONAL PROTEIN DEFICIENCY?

rare (1:100000) autosomal recessive mutation in the HSD17B4 gene

Which enzymes are involved?

Peroxisomal multifunctional enzyme type 2

Disease	D-BIFUNCTIONAL PROTEIN DEFICIENCY
Synonym	PSEUDO ZELLWEGER -> D-BIFUNCTIONAL PROTEIN DEFICIENCY
OMIM	261515 OMIM = Online Mendelian Inheritance of Men
Orphanet	300
Protein (UniProt)	Peroxisomal multifunctional enzyme type 2
ExPASy	4.2.1.119
Gene locus	5q23.1
ICD	E71.3
Summary	rare (1:100000) autosomal recessive mutation in the HSD17B4 gene
Laboratory findings	C26:0 inc (plasma) Dicarboxylic acids inc (urine) Pipecolic acid inc (urine) Pipecolic acid inc (plasma) Very-long-chain fatty acids inc (plasma)
Symptoms	ascites ataxia cerebellar atrophy or hypoplasia cholestasis clubfoot diarrhea dysmorphism early death epiphyseal and periarticular calcific stippling failure to thrive feeding difficulties, poor feeding hearing defect, deafness heart involvement hepatomegaly (large liver) hyperreflexia hypotonia liver involvement or dysfunction macrocephaly (large calvaria, >2 SD for age) mental retardation motor retardation nystagmus onset, childhood onset, infancy onset, neonatal peripheral neuropathy polyhydramnion (maternal) renal cysts seizures strabismus