Is pyruvate dehydrogenase deficiency heritable?

Yes. In the most common situation it is inherited in an x-linked pattern, affecting hemizygous males (with one x chromosome) and heterozygous females (two x chromosomes, one with mutation). Less commonly it is inherited in an autosomal recessive pattern, in which a mutation must be provided by both the mother and the father of the affected person.
Yes. Pyruvate dehydrogenase deficiency is heritable. Some cases are inherited in an autosomal recessive manner meaning that to be affected a person needs to inherit an abnormal gene from both their mother and their father. Other forms are inherited in an x-linked manner. Males may be affected with just one abnormal gene. Females need two. For more information about this consult your own doctor.

Related Questions

Hi doctors, can you tell me what is pyruvate dehydrogenase deficiency?

Ask Dr. Wiki. I could, but Wikipedia has a pretty good discussion. It's short and to the point: http://en.wikipedia.org/wiki/Pyruvate_ dehydrogenase _deficiency Basically,it's an inherited deficiency of enzymes involved with energy production and often leads to severe neurological problems,like seizures and mental retardation and available treatments have variable success and haven't been rigorously tested. Read more...

What's pyruvate dehydrogenase deficiency?

Pyruvate. Please go online to Wikipedia and look for pyruvate dehydrogenase deficiency. Not easy reading but important. If that is what you have it can be controlled to some extent. Take your time reading the article(s) and then discuss with your doctor. Read more...

How can I test if I have pyruvate dehydrogenase deficiency?

Call Stanford U. This disorder has metabolic and neurological manifestations with a wide range of severity, caused by mutations in an enzyme complex with multiple subunits. Testing is available at stanford university school of medicine in palo alto, ca. Read more...

Who suffers from pyruvate dehydrogenase deficiency (age, sex, race, etc)?

Suffers. The best way for you to begin to understand this is to go online and look up "Wikipedia" related to this topic. Not always easy to follow but worthwhile. Another option would be to look up the National Institute of Health (NIH). They may put things in an easier ;language. Read more...

What is a pyruvate dehydrogenase complex deficiency (pdcd)?

Pyruvate .... Much to much to get in short response. Please go on-line to "emedicine.medscape.com" and you will find a lot of important information. You will find other similar comments on the web as well. If you don't have computer access please visit your local library and they will guide you to the right articles. Read more...

What causes pyruvate dehydrogenase complex deficiency?

Mitochondrial diseas. A very rare genetic disorder which leads to neurodegeneration. Presenting in infancy or later childhood, the earlier presentation is usually more severe. Those who develop symtpoms later in childhood may survive into adulthood. Read more...

Can you tell me why the following symptoms occur in pyruvate dehydrogenase defficiency?

Due to lactic acid. Pyruvate dehydrogenase deficiency is characterized by the buildup of a chemical called lactic acid in the body Too much lactic acid can cause nausea, vomiting, heart and breathing problems. Acids in the blood interfere with the normal function of the body and that causes the symptoms Here is a helpful link http://ghr.nlm.nih.gov/condition/pyruvate-dehydrogenase-deficiency. Read more...

Whats pyruvate dehydrogenase complex?

Enzymes. Pyruvate dehydrogenase complex is a complex of three enzymes in the mitichondria that change the Amino Acid pyruvate into the molecule acetyl-coa by a process called pyruvate decarboxylation. Acetyl-coa is used in the citric acid cycle to make energy for cells the complex links the metabolic pathway that breaks down glucose (elemental sugar) to the citric acid cycle. Read more...