Francesca Lim (centre) has Methylmalonic Acidemia, a rare, genetic disorder of the liver. (Photo: ST)
Francesca Lim was four months old when she was diagnosed with Methylmalonic Acidemia (MMA), a rare genetic metabolic disorder of the liver. The young girl is now aged 17 after battling bravely against the odds.
MMA affects the body’s ability to break down certain proteins properly leading to an accumulation of toxic substances such as methylmalonic acid. This can lead to serious health issues. In severe cases – many patients dying within 1.5 years.
“A baby who seems healthy at birth might suddenly become seriously ill – refusing feeds, vomiting, or becoming unusually drowsy,” Associate Professor Tan Ee Shien told ST.
Professor Tan, who heads Genetics Service at KKH, added: “As MMA is so rare, doctors often investigate more common conditions first, leading to precious time lost in reaching the correct diagnosis. These delays are critical as symptoms often appear when the baby starts regular feeding, triggering a metabolic crisis.”
Francesca is the seventh person living with MMA in Singapore. You can read her full story in the ST report – including the importance of newborn screening.