4 doctors weighed in:

Is pyruvate dehydrogenase deficiency heritable?

4 doctors weighed in
Dr. Karl Muench
Clinical Genetics
2 doctors agree

In brief: 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.

In brief: 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.
Dr. Karl Muench
Dr. Karl Muench
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Dr. Linda DiMeglio
Pediatrics - Endocrinology

In brief: 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.

In brief: 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.
Dr. Linda DiMeglio
Dr. Linda DiMeglio
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