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.

Question: Are you going to breed your dog? <--- See him? For those who don't know, he is my Coby, my maltese/poodle MUTT. I got him from a rescue a few weeks ago. Anyway, I was with him in PetSmart when a lady asked, "What kind of dog is he?" I answered, "He's a maltese/poodle mix." The lady got a delighted look on her face. "Oh, a maltipoo? I love those dogs." "Something like that," I agreed through my teeth, wishing I could chew her out. "My Bella looks just like him. Maltipoos are great." The lady smiled and reached down to pet him. (Coby, bless him, slunk away from her hand and let out a low growl.) "Especially when you count all the genetic health problems," I added under my breath. She didn't hear me though. "He has a great temperment," she told me as Coby tried to hide from her. "Are you going to breed him?" I had a water bottle in my hand and I dropped it. My mouth fell open. Coby looked at me like I was crazy. "What?" I asked the woman, my eyes locking onto hers. She started to get uncomfortable. "He looks like a great breeding specimen. There aren't enough maltipoos nowadays. The pet store by me hasn't had any in stock since April." I was still frozen. A smile danced across my face, and an evil glint appeared in my eye. "Why yes," I agreed, "there *aren't* enough maltipoos nowadays." The lady looked relieved. "You know," she started, "I'm looking for a stud for my Bella. Would you be interested?" I didn't mention that Coby was neutered. "Maybe," I answered. "Is she a good specimen?" "Oh yes!" The lady began to tell me all about her Bella. "She's small-- about 6 pounds. She's pure white with brown eyes. She's very clean. I think she'd make a great mom." "She sure sounds like it," I agreed, my smile getting bigger. "What else?" She thought for a moment. "She gets compliments all the time. She's very cute." "She sure sounds like it," I agreed. "I just have a few more questions." "Sure," the lady said. "Has she been tested for vWB? How was her OFA score? Her CERF? Narcolepsy? Pyruvate Kinase Deficiency? Dyslapsia? Hypothyroidism? Progressive Retinal Atrophy?" The lady's eyes got bigger and bigger as I listed off some more (luckily I had just read an article about it. Funny how things work, huh?) Finally, when I was finished, she answered. "Her vet said she was really healthy." I smiled. "Of course. Is she registered?" "Yes!" the lady said proudly. "The Continental Kennel Club." "Oh wow. That's wonderful." I paused, composing myself. "Has she won any titles?" The lady looked at me blankly. "In dog shows?" I added. A pause. "I wasn't aware the CKC held dog shows." I shrugged. "Ah, well. It doesn't matter. Your Bella seems like a wonderful dog." "Oh, she is," the lady assured me. "Maybe I will stud out my Coby." The lady's face lit up. "That's wonderful! Bella will go into her first heat any day now, so I'll email you. Sound like a plan?" My smile got ten times wider. "Oh yes, it sure does. Only, I forgot to mention one thing." "Yeah?" "I only let Coby mate with b*tches that are spayed." The lady's face took on a look of confusion. "But... that means a dog can't have puppies." "Exactly." Angry, the lady stalked off, and I hurried to the car before I broke down into a fit of laughter that lasted a good ten minutes. Coby just looked at me the whole time. I was wondering... has anyone ever come up to you and asked about breeding your dog? What'd you do?

Answer: OH MY STARS......Shannon!! You did well!! :oD Ohhhhhh yes!! Pilot is quite handsome (and is neutered). I've had about 4 people ask me if I'd be interested in breeding him with their females. I tell them that he has his favorite "fluffy" pillow upstairs in our room that he is devoted to and there is no more room in his live for another female! LOL!!! One lady laughed "hysterically", and one other younger gal (in late 20's to early 30's) said............"Ewe"!!! Didn't matter to me what they thought. I got the last laugh and it was more than satisfying!