KEGG   NETWORK: N00608
Entry
N00608                      Network                                

Name
ALAD deficiency in heme biosynthesis
Definition
Gly -- ALAS1/2 >> ALAD*
  Expanded
C00037 -- (211,212) >> 210v1
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
Variant
210v1 (ALAD*)  ALAD deficiency
Metabolite
C00037  Glycine
Reference
PMID:2063868
  Authors
Plewinska M, Thunell S, Holmberg L, Wetmur JG, Desnick RJ
  Title
delta-Aminolevulinate dehydratase deficient porphyria: identification of the molecular lesions in a severely affected homozygote.
  Journal
Am J Hum Genet 49:167-74 (1991)
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