KEGG   DISEASE: Leukotriene C4 synthase deficiency
Entry
H02284                      Disease                                
Name
Leukotriene C4 synthase deficiency
Description
Leukotriene C4 (LTC4) synthase deficiency is an inborn error of metabolism linked to a fatal developmental syndrome. It is characterised by severe muscular hypotonia, psychomotor retardation, failure to thrive, microcephaly, and the total absence of cysteinyl leukotrienes in body fluids.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C52  Inborn errors of lipid metabolism
     H02284  Leukotriene C4 synthase deficiency
Pathway
hsa00590  Arachidonic acid metabolism
Gene
LTC4S [HSA:4056] [KO:K00807]
Other DBs
ICD-11: 5C52.0Y
MeSH: C565439
OMIM: 614037
Reference
PMID:9820300
  Authors
Mayatepek E, Flock B
  Title
Leukotriene C4-synthesis deficiency: a new inborn error of metabolism linked to a fatal developmental syndrome.
  Journal
Lancet 352:1514-7 (1998)
DOI:10.1016/S0140-6736(98)01186-6
Reference
PMID:10896305
  Authors
Mayatepek E, Zelezny R, Lehmann WD, Hammond JW, Hoffmann GF
  Title
Defects in the synthesis of cysteinyl leukotrienes: a new group of inborn errors of metabolism.
  Journal
J Inherit Metab Dis 23:404-8 (2000)
DOI:10.1023/A:1005664204956
Reference
PMID:11079193
  Authors
Mayatepek E
  Title
Leukotriene C4 synthesis deficiency: a member of a probably underdiagnosed new group of neurometabolic diseases.
  Journal
Eur J Pediatr 159:811-8 (2000)
DOI:10.1007/s004310000601
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