KEGG   NETWORK: N00607
Entry
N00607                      Network                                

Name
HMBS deficiency in heme biosynthesis
Definition
Gly -- ALAS1/2 >> ALAD >> HMBS*
  Expanded
C00037 -- (211,212) >> 210 >> 3145v1
Class
nt06011 Heme biosynthesis
Type
Variant
Pathway
hsa00860  Porphyrin and chlorophyll metabolism
Disease
H01763  Porphyria
H00202  Hepatic porphyria
Gene
211  ALAS1; 5'-aminolevulinate synthase 1
212  ALAS2; 5'-aminolevulinate synthase 2
210  ALAD; aminolevulinate dehydratase
3145  HMBS; hydroxymethylbilane synthase
Variant
3145v1 (HMBS*)  HMBS deficiency
Metabolite
C00037  Glycine
Reference
PMID:2243128
  Authors
Delfau MH, Picat C, de Rooij FW, Hamer K, Bogard M, Wilson JH, Deybach JC, Nordmann Y, Grandchamp B
  Title
Two different point G to A mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyria.
  Journal
J Clin Invest 86:1511-6 (1990)
DOI:10.1172/JCI114869
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