Russell-Silver Syndrome is a genetic condition, classified under growth disorders that slow down and restrict development at the expected rate. It is prominent before and after birth. Babies born with this condition will weigh significantly less than healthy babies, and often fail to mature physically. In other words, they fail to thrive. Disproportionate head in relation to the rest of the body, low birth rate, as  Read More

Tyrosinemia type I is a rare autosomal recessive genetic metabolic disorder characterized by lack of the enzyme fumarylacetoacetate hydrolase (FAH), which is needed for the final break down of the amino acid tyrosine. Failure to properly break down tyrosine leads to abnormal accumulation of tyrosine and its metabolites in the liver, potentially resulting in severe liver disease. Tyrosine may also accumulate in the kidneys and central nervous s  Read More