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Further Details!

Amino acid disorders are a group of rare inherited conditions. Amino acids are building blocks that make up protein while enzymes are biological catalysts can process amino acids. Without these enzymes, or defective enzymes, disorders will arise. The condition Homocystinuria is an amino acid disorder that affects the enzyme cystathionine synthetase. 

 Cystathionine b-synthase is an enzyme that converts homocysteine to cystathionine.

It is an autosomal recessive inherited disorder of methionine (amino acid) metabolism. This would mean that the affected child must have had inherited the non-working gene from both parents to be affected seriously. 

An autosomal recessive disorder means 2 copies of the affected/abnormal gene must be present for the trait to occur. 

In this diagram, 'a' is the abnormal gene, and the affected offspring inherited 2 sets of 'a', thus the disorder developed. 







The estimated incidence of Homocystinuria is 1:200,000.

It is usually diagnosed around birth during the first few weeks of life. However, it can be diagnosed a bit later and this depends on the screening and varies among different countries.

 Newborn infants appear healthy. Early symptoms, if present at all, are not obvious.