Question on Phenylketonuria

Question

Phenylketonuria is an inherited disorder involving a single autosomal gene and a simple dominant-recessive inheritance pattern.

What is another disorder that has the same charateristics to Phenylketonuria?

Thanks for your help.

Answer 1

Here's some of the more well-known ones: Cystic fibrosis, Tay-Sachs, sickle cell anemia, spinal muscular atrophy

Answer 2

PKU is inherited in a dominant-recessive fashion. It's inherited recessively. Both parents need to have at least one PKU gene (making them a carrier) and they need to each pass one of those genes onto their child for them to be born with PKU.

Similar metabolic disorders are OTC and MSUD. I don't know much about these two disorders, but I know they're somewhat similar to PKU.

Answer 3

Galactosemia is also an autosomal recessively inherited disorder. Affected individuals cannot convert the milk sugar galactose to glucose, and if not detected early, will, like PKU sufferers, develop mental retardation. They also develop jaundice, cataracts, and seizures.