2 weeks ago
Baby’s Sweet Scent Leads to Maple Syrup Urine Disease Diagnosis
Maple Syrup Urine Disease, or MSUD, is a rare condition babies can be born with.
Their bodies cannot properly process three building blocks found in protein foods.
These substances can build up and harm the brain and body.
Some babies may have urine, sweat or earwax that smells like maple syrup.
Other warning signs include poor feeding, vomiting, unusual sleepiness or abnormal movements.
Leo’s newborn screening needed to be repeated before doctors diagnosed him.
He spent three weeks in the hospital receiving treatment.
He will need a carefully controlled diet and medical care throughout his life.
Finding MSUD early can help prevent serious illness.
Leo was diagnosed with Maple Syrup Urine Disease after an inconclusive newborn amino acid screening result.
His parents noticed an unusual sweet smell resembling maple syrup or pancakes.
MSUD prevents the body from properly breaking down leucine, isoleucine and valine.
Leo spent three weeks in hospital receiving treatment to remove harmful substances from his blood.
Long-term management involves a specialist-supervised protein-restricted diet and careful monitoring.
- Who
- Leo, the son of Megan Popps and Devaughn Debelak, was diagnosed with MSUD.
- What
- He was diagnosed with Maple Syrup Urine Disease, a genetic disorder affecting the processing of three amino acids.
- Where
- When
- Leo was born in February 2026; his diagnosis followed his newborn screening and a repeat test.
- Why
- An inconclusive amino acid profile and a persistent sweet smell prompted further investigation.
Key facts
- Condition
- Maple Syrup Urine Disease (MSUD)
- Affected amino acids
- Leucine, isoleucine and valine
- Possible smell
- Maple syrup, caramel or burnt sugar
- Newborn screening
- Leo’s initial heel-prick screening was inconclusive and had to be repeated
- Hospitalization
- Leo spent three weeks in hospital after diagnosis
- Long-term care
- A specialist-supervised protein-restricted diet and monitoring are required
- Major risks
- Neurological damage, seizures, coma and potentially death if untreated
Quotes
Megan Popps
Mother of Leo
“While we were still in the hospital, Leo had the heel prick test done and we were discharged home before the results came back.”
NDTV
“MSUD can be controlled with diet. Leo will have to be on a specialised diet for the rest of his life.”
NDTV
Sources
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