Isovaleric acidaemia is a rare autosomal recessive metabolic disorder resulting from a deficiency in isovaleryl-CoA dehydrogenase, an enzyme critical for the catabolism of the branched-chain amino ...

Newborn screening for inborn errors of metabolism (IEMs) is an essential public health initiative that facilitates early detection of genetic disorders affecting metabolic pathways. By utilising ...

Routine newborn screening (NBS) has transformed early disease detection. However, traditional biochemical tests limit the range of conditions that can be identified at birth. Next-generation ...

September is Newborn Screening Awareness Month, highlighting the importance of early detection and intervention for newborns. Here, Dr. Joshua Baker, attending physician in genetics, genomics and ...

The Utah Newborn Screening Program tests all newborns in Utah for over 40 medical conditions that can affect their growth, development, and long-term health. While many people associate newborn ...

Lancet study proves that NHS refusing to screen for spinal muscular atrophy (SMA) as part of the newborn heel prick test is ...

Early results from a study of newborn screening methods show that DNA analysis picks up many more preventable or treatable serious health conditions than standard newborn screening and is favored by ...

The United States Cystic Fibrosis Foundation released the first guideline on newborn screening for cystic fibrosis (CF), in order to improve timely detection of CF in infants from all racial and ...

Imagine knowing about your baby’s health needs even before symptoms appear. By 2035, newborn genome screening could make this possible for families across India. With advances in genetics and ...

The mother of a four-year-old boy with a rare muscle disease says screening newborn babies for the condition could "save ...

You might be aware that a blood sample is taken soon after your infant is born to test for dozens of genetic and metabolic disorders. But did you realize that super quick (and painless) newborn ...