Hyperphenylalanemia

Sophie's offical diagnosis at this point is hyperphenylalanemia. Which is mild form of PKU.

Phenylketonuria (PKU) is an inherited error of metabolism caused by a deficiency in the enzyme phenylalanine hydroxylase. Loss of this enzyme results in mental retardation, organ damage, unusual posture and can, in cases of maternal PKU, severely compromise pregnancy.

Classical PKU is an autosomal recessive disorder, caused by mutations in both alleles of the gene for phenylalanine hydroxylase (PAH), found on chromosome 12. In the body, phenylalanine hydroxylase converts the amino acid phenylalanine to tyrosine, another amino acid. Mutations in both copies of the gene for PAH means that the enzyme is inactive or is less efficient, and the concentration of phenylalanine in the body can build up to toxic levels. In some cases, mutations in PAH will result in a phenotypically mild form of PKU called hyperphenylalanemia. Both diseases are the result of a variety of mutations in the PAH locus; in those cases where a patient is heterozygous for two mutations of PAH (ie each copy of the gene has a different mutation), the milder mutation will predominate.


So for some background on what we have been up to: Every Monday and Wednesday we go to Texas Children's Hospital. Some days we only go to the lab and have her blood taken... others we meet with the metabolic dietitian, Becca, and some days we meet with our genetic specialist doctor and his nurse.

Sophie's numbers had been rising, however, the last test she scored 5.0 on the scale. The scale or where we want Sophie to stay is between 2-6. Normal people are below 1.

So 5.0 is awesome!

We have her on special formula called Periflex. It contains all the amino acids except the ones she can't break down and it also contains the enzyme, Tyrosine, which is what she does not produce naturally b/c she can't break down phenylalanine.

Anyways, we thought she would not be able to eat any food until she was alot older, but looks like if she continues to respond positively to the formula; that we can give her rice cereal at 4 months and might be able to add in some veggies into her diet at 6 months.

The bottom line is she will always be a vegetarian. Her body will never be able to process meats or ingredients that contain phe, like Aspartame and Nuritsweet. She will always have to take her blood and check her phe levels. And we will always have to count the amount of phe she consumes in her food and formula daily. It's just a lifestyle Dustin and I will grown into and Sophie will always know.

Dustin and I are going to start taking Sophie's blood at home and sending it in weekly, so we will be able to elimate so many trips to TCH. However, if you know me or Dustin, you know that neither of us do good with blood. But we went to training and we are up for the challenge. I can do this! ( I just hate when she cries)

Dustin and I are so happy with the news today. It looks like Sophie is going to be a canidate for Kuvan. ( a medicine available for children over 7 )

We feel so blessed to have our little vegetarian in our life! She truly is the BEST thing to ever happen to either of us.