New and Unusual Disorder Discovered in Children

Researchers have discovered the DNA cue of a bizarre genetic disorder that has been identified in a handful of children across the country, according to a recent study.

The study was published in Genetics in Medicine, the official journal of the American College of Medical Genetics.

According to the study, mutations in the NGLY1 genome have been identified as the cause of a strange and extremely rare disorder found in only a handful of children across the Unites States.

The disorder, called only recessive allele NGLY1 deficiency for now, was first discovered in Bertrand Might, the newborn son of Mathew Might, an assistant professor at the University of Utah. Bertrand's disorder involved a number of alarming symptoms including hyptotonia -- where he would go entirely limp -- with decreased cognitive and motor development. Bertrand also didn't cry -- an alarming thing in itself among infants.

Working with a team of scientists from Duke University, a protein-focused analysis of Bertrand's DNA revealed a never-before-seen mutation of the NGLY1 gene that they theorized inhibited the production of an important enzyme called N-glycanase 1. This enzyme helps break down defective proteins so that the body can reuse them. Without it, defective proteins build up and increasingly inhibit cell communication, which in-turn delays motor and neurological development in a child.

According to a regular blog Might kept, the father believed his son was "patient 0," the only child in the world to lack this enzyme.

However, the recent study has identified eight additional children in the U.S. who exhibit the symptoms of this condition. These common symptoms included developmental delay, hypotonia, elevated liver activity, diminished reflexes, and even random seizures. In a comprehensive examination of genetic cues, the researchers were able to identify a singular genetic mutation of NGLY1 shared between all the patients. This mutation, the researchers concluded, is the driving force behind this tragic condition.

This is actually good news for parents of children like Bertrand. With the disorder now identified as a true genetic condition, and not just some anomaly, researchers can now look into ways to detect and treat it appropriately. According to the researchers, with further study, a broader range of genetic mutations causing this disorder may be detected, encouraging a better understanding of why it occurs.

The study was published in Genetics in Medicine on March 20.

The initial Duke University study was published in the Journal of Medical Genetics, a British Medical Journal group publication, on May 11, 2012.