KEGG   DISEASE: D-bifunctional protein deficiencyHelp
Entry
H02098                      Disease                                

Name
D-bifunctional protein deficiency;
DBP deficiency;
Bifunctional enzyme deficiency
  Supergrp
Peroxisomal beta-oxidation enzyme deficiency [DS:H00407]
Description
D-bifunctional protein (DBP) deficiency is an autosomal recessive inborn error of peroxisomal fatty acid oxidation. DBP is a homodimeric enzyme with 79-kDa subunits, each of which consists of three functional units. And it catalyzes the second and third steps of peroxisomal beta-oxidation of fatty acids. The biochemical hallmark of this disorder is the accumulation of very long-chain fatty acids (VLCFA), 2-methyl branched-chain fatty acids, and the bile acid intermediates (DHCA/THCA). The clinical presentation is very severe, and most affected children die within the first 2 years of life. Virtually all patients present with neonatal hypotonia and seizures.
Category
Congenital disorder of metabolism
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Peroxisomal diseases
   H02098  D-bifunctional protein deficiency
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C57  Peroxisomal diseases
     H02098  D-bifunctional protein deficiency
BRITE hierarchy
Pathway
hsa00120 Primary bile acid biosynthesis   
hsa01040 Biosynthesis of unsaturated fatty acids   
hsa04146 Peroxisome   
Network
nt06021  beta-Oxidation in peroxisome
  Element
N00777  HSD17B4 deficiency in beta-oxidation
N00802  HSD17B4 deficiency in beta-oxidation
Gene
HSD17B4 [HSA:3295] [KO:K12405]
Other DBs
ICD-11: 5C57.1
ICD-10: E71.3
MeSH: C536663
OMIM: 261515
Reference
  Authors
Ferdinandusse S, Ylianttila MS, Gloerich J, Koski MK, Oostheim W, Waterham HR, Hiltunen JK, Wanders RJ, Glumoff T
  Title
Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis.
  Journal
Am J Hum Genet 78:112-24 (2006)
DOI:10.1086/498880
Reference
  Authors
Ferdinandusse S, Denis S, Mooyer PA, Dekker C, Duran M, Soorani-Lunsing RJ, Boltshauser E, Macaya A, Gartner J, Majoie CB, Barth PG, Wanders RJ, Poll-The BT
  Title
Clinical and biochemical spectrum of D-bifunctional protein deficiency.
  Journal
Ann Neurol 59:92-104 (2006)
DOI:10.1002/ana.20702

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