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==Importance of hPBGD==

===Acute Intermittent Porphyria===

Acute intermittent porphyria (AIP) is an autosomal dominant disorder (0.06% incidence rate in population) caused by a mutation in the hydroxymethylbilane synthase gene (HMBS)<ref>Whatley S.D., Roberts A.G., Llewellyn D.H., Bennett C.P., Garrett C, Elder G.H. (2000). Non-erythroid form of acute intermittent porphyria caused by promoter and frameshift mutations distant from the coding sequence of exon 1 of the HMBS gene. Hum. Genet. 107 (3): 243–248.</ref>. The protein, responsible for the conversion of porphobilinogen (PBG) to hydroxymethylbilane (HMB) is less active in most affected individuals by approximately one-half normal activity<ref>Whatley S.D., Roberts A.G., Llewellyn D.H., Bennett C.P., Garrett C, Elder G.H. (2000). Non-erythroid form of acute intermittent porphyria caused by promoter and frameshift mutations distant from the coding sequence of exon 1 of the HMBS gene. Hum. Genet. 107 (3): 243–248.</ref>. Defective PBGD, AIP, and can be diagnosed through the detection of increased concentrations of porphobilinogen (PBG) in urine as it remains unincorporated by the defective enzyme<ref name="Aarsand">PMID: 16595824</ref>.

Acute intermittent porphyria (AIP) is an autosomal dominant disorder (0.06% incidence rate in population) caused by a mutation in the hydroxymethylbilane synthase gene (HMBS)<ref name="Whatley">Whatley S.D., Roberts A.G., Llewellyn D.H., Bennett C.P., Garrett C, Elder G.H. (2000). Non-erythroid form of acute intermittent porphyria caused by promoter and frameshift mutations distant from the coding sequence of exon 1 of the HMBS gene. Hum. Genet. 107 (3): 243–248.</ref>. The protein, responsible for the conversion of porphobilinogen (PBG) to hydroxymethylbilane (HMB) is less active in most affected individuals by approximately one-half normal activity<ref name="Whatley"name="Whatley"></ref>. Defective PBGD, AIP, and can be diagnosed through the detection of increased concentrations of porphobilinogen (PBG) in urine as it remains unincorporated by the defective enzyme<ref name="Aarsand">PMID: 16595824</ref>.

==References==

Sandbox Reserved 349: Difference between revisions

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@@ Line 11: / Line 11: @@
 ==Importance of hPBGD==
 ===Acute Intermittent Porphyria===
-Acute intermittent porphyria (AIP) is an autosomal dominant disorder (0.06% incidence rate in population) caused by a mutation in the hydroxymethylbilane synthase gene (HMBS)<ref>Whatley S.D., Roberts A.G., Llewellyn D.H., Bennett C.P., Garrett C, Elder G.H. (2000). Non-erythroid form of acute intermittent porphyria caused by promoter and frameshift mutations distant from the coding sequence of exon 1 of the HMBS gene. Hum. Genet. 107 (3): 243–248.</ref>. The protein, responsible for the conversion of porphobilinogen (PBG) to hydroxymethylbilane (HMB) is less active in most affected individuals by approximately one-half normal activity<ref>Whatley S.D., Roberts A.G., Llewellyn D.H., Bennett C.P., Garrett C, Elder G.H. (2000). Non-erythroid form of acute intermittent porphyria caused by promoter and frameshift mutations distant from the coding sequence of exon 1 of the HMBS gene. Hum. Genet. 107 (3): 243–248.</ref>. Defective PBGD, AIP, and can be diagnosed through the detection of increased concentrations of porphobilinogen (PBG)  in urine as it remains unincorporated by the defective enzyme<ref name="Aarsand">PMID: 16595824</ref>.
+Acute intermittent porphyria (AIP) is an autosomal dominant disorder (0.06% incidence rate in population) caused by a mutation in the hydroxymethylbilane synthase gene (HMBS)<ref name="Whatley">Whatley S.D., Roberts A.G., Llewellyn D.H., Bennett C.P., Garrett C, Elder G.H. (2000). Non-erythroid form of acute intermittent porphyria caused by promoter and frameshift mutations distant from the coding sequence of exon 1 of the HMBS gene. Hum. Genet. 107 (3): 243–248.</ref>. The protein, responsible for the conversion of porphobilinogen (PBG) to hydroxymethylbilane (HMB) is less active in most affected individuals by approximately one-half normal activity<ref name="Whatley"name="Whatley"></ref>. Defective PBGD, AIP, and can be diagnosed through the detection of increased concentrations of porphobilinogen (PBG)  in urine as it remains unincorporated by the defective enzyme<ref name="Aarsand">PMID: 16595824</ref>.
 ==References==
 <references/>