Tyrosinemia Type 1
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Tyrosinemia Type 1

  Overview Tyrosinemia is one type of amino acid disorder It is a genetic disorder characterized by disruptions in the multistep process that breaks down the amino acidtyrosine, a building block of most proteins. If untreated, tyrosine and its byproducts build up in tissues and organs, which can lead to serious health problems. There are three types...

What is Homocystinuria?
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What is Homocystinuria?

Homocystinuria Amino acid disorders (AAs) are a group of rare inherited conditions. They are caused by enzymes that do not work properly. Protein is made up of smaller building blocks called amino acids. A number of different enzymes are needed to process these amino acids for use by the body. Because of missing or non-working...

Amino Acids (AA) Disorders in Newborns
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Amino Acids (AA) Disorders in Newborns

Incidence: Amino acid disorders incidence excluding Phenylketonuria (PKU) in West Midland (1 in 5354) according to the study conducted in year (2006) (Sanderson et al, 2006) In British Columbia Amino acid disorder in Newborns is 24 in 100,000 births and 1/ 4,200 (Applegarth et al, January 2000) Overview: Amino acid disorders (AAs) are a group...