Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: EC:2.5.1.61 (
porphobilinogen deaminase
)
637
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Acute intermittent porphyria (AIP) is an autosomal dominant disorder caused by a partial deficiency of
porphobilinogen deaminase
(
PBGD
), the third enzyme of the heme biosynthetic pathway. Establishing accurate diagnoses of the patient and asymptomatic family members with AIP involves identifying the
PBGD
enzyme mutations directly. Genetic testing provides a precise diagnosis for the patient and other asymptomatic family members, and thereby proper treatments can be initiated to prevent the disease from progressing. In this study, we report a novel
PBGD
missense mutation, A G-to-C, at the position 988 resulting in Alanine to
Proline
(Ala330Pro), in a Chinese family.
...
PMID:A novel mutation in the porphobilinogen deaminase gene in an extended Chinese family with acute intermittent porphyria. 2587 Sep 42
