Learn about
Inborn Errors of
Metabolism (IEM)
We guide families and clinicians through IEM. What it is, how to screen, and where to find expert care.
What are Inborn Errors of Metabolism (IEM) ?
IEMs are usually caused by a change (mutation) in a single gene. This gene carries instructions for making a specific enzyme or protein involved in metabolism. When the gene is altered, the enzyme may not work as it should.
Most IEMs are inherited from both parents in an autosomal recessive pattern. This means:
1
Both parents are typically healthy carriers.
2
Each pregnancy has a 25% chance of the child being affected, a 50% chance of being a carrier like the parents, and a 25% chance of being unaffected and not a carrier.
These conditions are present from birth, but symptoms may appear at different ages, from the newborn period to later childhood or even adulthood, depending on the specific disorder.
If a child shows these symptoms repeatedly or during illness, metabolic evaluation may be needed. Do not ignore your concerns, speak to a doctor and ask if an Inborn Error of Metabolism could be the cause.
1
Recurrent vomiting
2
Excessive sleepiness or lethargy
3
Seizures
4
Developmental delay
5
Poor feeding
6
Illness after fasting or infection
7
Unusual body odour
We connect families to metabolic specialists, licensed dieticians, and trusted providers of medical foods and medicines.
Families may be able to receive free or subsidised treatment for rare metabolic disorders through government schemes. Learn how to register at a Centre of Excellence (COE), check eligibility, and start the process step‑by‑step.
