Real Stories

Tyrosinemia Type I - Joshua

  • Tyrosinemia Type I is a type of amino acid disorder characterised by the lack of fumarylacetoacetate hydrolase (FAH), an enzyme required to breakdown the amino acid tyrosine;
  • If left untreated, the condition can potentially result in a wide variety of symptoms including liver & kidney failures, developmental delays, increased risk of liver cancer, etc.

Battling with Canavan disease

  • Canavan disease is a progressive and fatal cerebral degenerative disease that begins in infancy. This inherited genetic abnormality is caused by mutations in the gene for an enzyme which causes deterioration of the white matter (myelin) in the brain
  • Symptoms such as mental retardation, lack of head control etc, usually become noticeable at the age of three to nine months old. Many children do not live past age 10.
  • Although there is no cure for Canavan disease currently, current treatment involves managing the symptoms.

Lauren’s PKU Story

  • Phenylketonuria (also known as PKU) is a congenital disorder that increases the levels of phenylalanine in the blood. Phenylalanine is the building block of proteins that are obtained through dietary intake of food such as meat, fish, beans, eggs  and some artificial sweeteners;
  • If left untreated, phenylalanine can build up to harmful levels in the body, causing permanent intellectual disability and other serious health problems;
  • Affected infants usually become apparent by 6 months of age with signs of mental retardation;
  • PKU affects 1 in about 15,000 births.

Matthew’s Fight against Primary Hyperoxaluria

  • Primary hyperoxaluria is due exclusively to a genetic defect that causes a loss of specific enzymatic activity. With the absence of enzymatic activity, the alternative pathway that leads to oxalate production as an end-product of glycolate metabolism becomes extremely active, resulting in extremely high oxalate production.
  • Prevention measures to minimize stone formation include maintenance of high fluid intake; pyridoxine supplements for those who are pyridoxine responsive; use of potassium or sodium citrate or neutral orthophosphate.