Neonatologist Gurvir Khurana had only read about it in textbooks. Seeing it in real life has been a shock: baby after baby born severely anemic, lungs filled with fluid, bodies covered with rashes.
Some only lived minutes; others died within days or weeks.
The cause: congenital syphilis.
That's why a paper published Thursday in the journal Genetics in Medicine is so remarkable.
The paper identifies NGLY1 deficiency as an inherited genetic disorder, caused by mutations in the NGLY1 gene. The researchers have confirmed eight patients with these mutations who share several symptoms, including developmental delays, abnormal tear production and liver disease.