Australian infants and children living with a rare, inherited genetic disease known as Hereditary Tyrosinaemia Type 1 (HT-1) are now eligible to receive the life-saving treatment, Orfadin (insert chemical compound) under the Life Savings Drug Program (LSDP).
In newborns living with the rare, genetic metabolic disorder, the baby lacks the ability to break down the amino acid, tyrosine, caused by an absence of the required enzyme, fumarlyacetoacetate hydrolase (FAH). If the body fails to break down tyrosine, it can led to severe liver disease, kidney dysfunction and neurological problems.
With only one or two Australian babies diagnosed with the rare disease each year (compared to one in every 100,000 newborns worldwide), Orfadin offers infants the potential to live well beyond five standard years.
As a hereditary disease, both parents carry a 25 per cent chance of passing on the defective gene to their newborns.
Children living with tyrosinaemia are unable to gain weight, experience retarded growth, vomiting, liver failure, an accumulation of fluid in the peritoneal cavity, and softening of the bones.
Diagnosis of tyrosinemia type 1 often requires analysis of amino acids, succinylacetone and alpha-fetoprotein testing. Treatment options most commonly include dietary changes, medication and liver transplants.