Infant heel blood test helps you find out if you have a genetic metabolic disease

If you have a family history of a metabolic disease that heel prick test can affect your metabolism, be sure to let your health care professional know.

Infants are screened for six genetic and metabolic disorders. These are:

Phenylketonuria (PKU)

Medium chain acyl coenzyme A dehydrogenase deficiency (MCADD)

Maple syrup urine disease (MSUD)

Isovaleric acidemia (IVA)

Glutaric aciduria type 1 (GA1)

Homocystinuria (unresponsive to pyridoxine) (hcu)

About 1u002F10,000 of babies born in the UK have PKU or MCADD. other cases are rare, ranging from 1 in 100,000 to 1 in 150,000 babies.

Without effective treatment, infants with genetic metabolic disorders may suddenly become very ill. Each of these mental illnesses develops with a different set of symptoms.

Depending on which one affects your baby, this development can be life-threatening or cause some serious developmental problems.

They can all be treated with a carefully managed diet and, in some cases, medication.