ask our doctors

Pyruvate Kinase Deficiency

Get the facts on Pyruvate Kinase Deficiency treatment, diagnosis, staging, causes, types, symptoms. Information and current news about clinical trials and trial-related data, Pyruvate Kinase Deficiency prevention, screening, research, statistics and other Pyruvate Kinase Deficiency related topics. We answer all your qestions about Pyruvate Kinase Deficiency.

Question: If the baby's grandfather had pyruvate kinase deficiency, will the baby be a carrier or be affected? What are the odds that two recessive trait carriers of pyruvate kinase deficiency meet? If one is a carrier because his father had pyruvate kinase deficiency, will the baby be affected?

Answer: Knew nothing about this but googled and found this info. I don't know what the odds are that two recessive carriers would meet but it says this disorder is very rare with an estimated 51 cases in the Caucasian population. Inheritance patterns are difficult to explain but this is what is says: "PKD is mainly inherited in an autosomal recessive manner. There have been a few families where it appeared that PKD was inherited in either an autosomal dominant manner or where the carriers of PKD exhibited mild problems with their red blood cells. As with all autosomal recessive conditions, affected individuals have a mutation in both pair of genes. Most individuals with PKD are compound heterozygotes, meaning that each PKLR gene in a pair contains a different mutation. There are individuals who have the same mutation on each PKLR gene, but these individuals tend to be children of parents who are related to each other." In plain English this means it's very unlikely that two individuals with the mutation would meet and marry unless you are related to each other. Also, the prognosis of having this are pretty good, it says most live a normal life span without much impairment, or even none at all - if the mutation is recognized and treated. If you are worried about it, you can seek genetic counseling, that way you can put your mind at ease and rule out other possible genetic disorders many people carry without even knowing about it.

Pyruvate Kinase Deficiency News