Early Detection Saves Lives in Rare Galactosemia Condition
Researchers studied 59 infants with classical galactosemia, a rare genetic condition where the body cannot properly process a natural sugar called galactose. …
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Early Treatment Helps Babies With Rare Metabolic Disorder
Carbonic anhydrase VA deficiency is an extremely rare genetic condition that affects how a baby's body processes certain chemicals, leading to dangerous acid …
Read MoreVitamin K Shots for Newborns Still Work Great, Study Shows
Researchers in Switzerland checked whether giving newborns vitamin K by mouth (instead of a shot) actually prevents a rare but serious bleeding problem. They …
Read MoreNew Blood Test Can Catch a Rare Seizure Disorder in Newborns
Scientists have developed a better way to detect a rare condition called pyridoxine-dependent epilepsy (PDE) in newborns by looking for specific markers in …
Read MoreHow Baby Blood Tests Can Reveal Mom's Hidden Health Problems
Newborn screening tests that check a baby's blood for serious health conditions have made an unexpected discovery: sometimes these tests find that the mother …
Read MoreWhy Some Babies With Vitamin B12 Problems Get Missed at Birth
Doctors use newborn screening tests to catch serious health problems early, including a rare vitamin B12 disorder called CblC deficiency. However, standard …
Read MoreWhy a 5-Year-Old Boy's Cystic Fibrosis Was Missed at Birth
Cystic fibrosis is a serious genetic disease that usually gets caught through newborn screening tests. But this case shows it can sometimes be missed. A …
Read MoreNew Ways to Check if Babies Have Strong Bones
Doctors need better tools to check if newborns and babies have healthy bones, especially those at risk for weak bones. This review looks at different methods …
Read MoreHow Special Diets Help Babies With Rare Metabolic Disorders
Babies born with certain rare inherited conditions struggle to process nutrients properly, which can cause serious health problems if not treated early. …
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