Genomic coordinate 9:113,386,312
Here I present: “Lead Poisoning Susceptibity”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (ALAD) 鉛中毒易感性。 icd10=T56.0X1A
INTRODUCTION.
Lead poisoning is a major cause of acquired porphobilinogen synthase (PBGS) deficiency because lead directly inhibits the enzyme’s activity. A hereditary deficiency of PBGS (called ALAD porphyria) makes a person far more sensitive to even low levels of lead exposure, resulting in more severe toxicity.
There is evidence that ALAD porphyria is caused by mutation in the delta-aminolevulinate dehydratase (ALAD) gene encoded on cytogenetic location 9q32 and genomic coordinate 9:113,386,312.
