Researchers in Utah have identified a rare genetic disorder in a newborn for the first time through routine newborn screening.
“We call it GAMT, it's easier. The terminology is long, it's Guanidinoacetate Methyltransferase Deficiency Syndrome. What happens is, there's a block in the metabolic pathway, that there's an enzyme that builds up, causing a lot of downstream effects, including seizures, neurological issues. And it can be devastating for patients and families,” said Kim Hart, the program manager for the Utah Department of Health’s newborn screening program.
Hart said people living with GAMT must be treated for it daily. Luckily, if the rare genetic disorder is caught early, they can live an overall normal and healthy life.
“It's a medical food that they're having to take. It's a mixture of creatine and some other amino acids that they have to take several times a day, and it's adjusted as they grow with body weight,” Hart said.
Newborn genetic screening began in the 1960s. All newborns in the United States are screened, but what they’re screened for varies by state. Utah began screening for GAMT deficiency in 2015, and so far only a handful of states, including Michigan and New York, have followed suit.
“This is the first case so far that's picked it up through newborn screening. So, it's a big deal. We're excited that it works because there's always the nervousness of hoping that it works and you're going to find these babies and get them treatment in time and to really make a difference,” Hart said.
Hart hopes the success in Utah will inspire other states to include GAMT on their newborn screening panels, and that eventually, all states will adopt uniform screening practices to ensure babies with genetic disorders have an equal chance of being diagnosed regardless of where they’re born.