Homocystinuria

Homocystinuria is thought to be inherited as an autosomal recessive genetic trait, which means the gene defect is unknowingly passed down from generation to generation. This faulty gene only emerges when two carriers have children together and pass it to their offspring. For each pregnancy of two such carriers, there is a 25% chance that the child will be born with the disease and a 50% chance the child will be a carrier for the gene defect.

Studies conducted since 1979 show that 1 of every 200,000 live births in the Unite States will have homocystinuria. Prevalence in Great Britain, Ireland, and Australia is approximately is 1 in 82,000 live births.

Amino acids are the building blocks of protein. Of the 20 amino acids found in body protein, 8 cannot be made by adults and must be obtained from foods. These are considered essential amino acids. Normally, the protein we eat is broken down or "metabolized" in our bodies into amino acids and used for growth and tissue repair.

People who are born with homocystinuria are unable to properly break down methionine, an amino acid found in food. In people not affected by homocystinu

Low-protein food is recommended to persons with particular types of metabolic disorders such as Homocystinuria (HCU), Phenylketonuria (PKU), Methylmalonic Acidemia(MMA) and Tyrosinemia. Each of these disorders requires food products which are low in particular types of amino-acids. I.e. methonine in the case of HCU, phenylalanine in the case of PKU. However it is not easy to find high protein foods with low content of these amino acids. Hence, the patients are given low-protein foods.

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