KEGG   DISEASE: Acute recurrent myoglobinuria
Entry
H01290                      Disease                                

Name
Acute recurrent myoglobinuria
Description
Acute recurrent myoglobinuria is caused by inborn errors of glycogenolysis, mitochondrial fatty acid beta-oxidation, and oxidative phosphorylation. It has been reported that mutations in LPIN1 cause recurrent acute myoglobinuria in childhood.
Category
Inherited metabolic disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of lipid/glycolipid metabolism
   H01290  Acute recurrent myoglobinuria
Human diseases in ICD-11 classification [BR:br08403]
 21 Symptoms, signs or clinical findings, not elsewhere classified
  Symptoms, signs or clinical findings of the genitourinary system
   Clinical findings on examination of urine, without diagnosis
    MF95  Myoglobinuria
     H01290  Acute recurrent myoglobinuria
Pathway
hsa00561  Glycerolipid metabolism
hsa00564  Glycerophospholipid metabolism
Gene
LPIN1 [HSA:23175] [KO:K15728]
Other DBs
ICD-11: MF95
ICD-10: R82.1
MeSH: C564832
OMIM: 268200
Reference
  Authors
Zeharia A, Shaag A, Houtkooper RH, Hindi T, de Lonlay P, Erez G, Hubert L, Saada A, de Keyzer Y, Eshel G, Vaz FM, Pines O, Elpeleg O
  Title
Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood.
  Journal
Am J Hum Genet 83:489-94 (2008)
DOI:10.1016/j.ajhg.2008.09.002
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