KEGG   DISEASE: Hyperglycinuria
Entry
H01304                      Disease                                
Name
Hyperglycinuria
Description
Hyperglycinuria (HG) is an autosomal recessive abnormality of renal transport of glycine, resulting from mutations in genes encoding proline and glycine transporters.
Category
Urinary system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Disorders of metabolite absorption or transport
    5C60  Disorders of amino acid absorption or transport
     H01304  Hyperglycinuria
Pathway
hsa04974  Protein digestion and absorption
hsa04978  Mineral absorption
Gene
SLC6A20 [HSA:54716] [KO:K05048]
SLC6A19 [HSA:340024] [KO:K05334]
SLC36A2 [HSA:153201] [KO:K14209]
Comment
Iminoglycinuria [DS:H00905] is related disorder.
Other DBs
ICD-11: 5C60.Y
OMIM: 138500
Reference
PMID:19033659
  Authors
Broer S, Bailey CG, Kowalczuk S, Ng C, Vanslambrouck JM, Rodgers H, Auray-Blais C, Cavanaugh JA, Broer A, Rasko JE
  Title
Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters.
  Journal
J Clin Invest 118:3881-92 (2008)
DOI:10.1172/JCI36625
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