In brief
Some children are born with a body that needs special handling of food, because a small part that helps digest it or turn it into energy doesn’t work well. Many of these conditions are found early by the newborn heel-prick test. The good news is that the right diet and regular follow-up protect a child’s growth in many cases.
Overview
Think of the body as a small factory turning food into energy and growth. In these conditions, one of the factory’s tools has been weak since birth, so something harmful builds up or something needed runs short. Signs can show in the first days, with a first cold or fasting, or as slow development. That is why the heel-prick result matters so much.
Signs that call for a doctor’s opinion
- An abnormal heel-prick result
- Refuses feeds or vomits a lot
- Sleeps more than usual and is hard to wake
- An unusual smell to the urine or body
- Slow development or seizures
Seek emergency care straight away for:
- Your child is very hard to wake or not responding
- Keeps vomiting and refuses all feeds
- Seizures or trouble breathing
How is the assessment done at the clinic?
- 1
We go over the result with you
We calmly explain the heel-prick result and hear your family history.
- 2
We examine your child
We check growth, weight and movement.
- 3
Tests to confirm
Blood and urine tests, and a genetic test if needed.
- 4
A food plan and follow-up
A suitable diet or special formula, and a plan for when your child is unwell.
Tests that may be requested
Not every child needs all of these; tests are chosen from what the assessment shows.
Blood test
Shows how your child’s body handles protein and energy.
Urine test
Shows whether something is building up in the body.
Tests when unwell
Sometimes we test while your child is unwell, when results are clearer.
Genetic test
Confirms the diagnosis and helps the family plan future pregnancies.
Care and follow-up
- A diet or special formula that suits your child
- A written plan for sick days and fasting
- Regular checks of weight, growth and tests
What to bring
- The heel-prick result paper
- Any previous tests with their dates
- What your child eats or drinks now
- Whether anyone in the family had something similar
Frequently asked questions
The heel-prick result is abnormal. Is my baby ill?
Not necessarily. It means we need confirming tests, and some come back normal. The important thing is not to delay the visit.
Can these conditions be treated?
Many can be managed with the right food or simple supplements, and the earlier we start, the better for your child.
Why did this happen to our child?
These conditions usually pass from both parents, who are healthy themselves, and are more common when parents are related. It is no one’s fault, and we help you plan future pregnancies.
Will my child need a special diet for life?
It varies. Some children need it long term; others only need extra care when they are unwell.
This information is educational and should not be used to diagnose your child or change treatment without a medical assessment.