Key points A 4-year-old boy presented to our urgent ophthalmology clinic for photophobia and persistent eye rubbing. He had been born at 39 weeks via Cesarean delivery, without complications. Prenatal ...

Arginase deficiency is a rare autosomal recessive metabolic disorder that disrupts the final step of the urea cycle, impairing the conversion of arginine into urea and ornithine. In affected ...

Low On Vitamin B12? This deficiency can cause brain fog, anxiety, and memory loss. Here are the symptoms, causes, diagnosis, and treatment options to protect your cognitive and mental health.

Magnesium is an important cofactor for numerous enzymes. All ATPase reactions require Mg 2+ –ATP, including those involved in RNA and DNA biologic functions. It opposes calcium actions and acts as a ...

February 28th is Rare Disease Day across the U.S. and around the world. The Immune Deficiency Foundation - based in Maryland - serves a specific rare disease ...

Lachner C, Martin C, John D, Nekkalapu S, Sasan A, Steinle N, Regenold WT: Older adult psychiatric inpatients with non-cognitive disorders should be screened for vitamin B12 deficiency. J Nutrition, ...

An enzyme replacement therapy developed by Immedica, the first drug for the inherited metabolic disorder arginase-1 (ARG1) deficiency that can alter the course of the disease, has been cleared for NHS ...

Think you know vitamin B12 deficiency? Know common myths, real symptoms, risk factors, and who truly needs testing to prevent ...

Rian McCann is almost seven years old. Her parents, Danielle and Frank described her as kind, sassy, smart and above all, resilient. Rian was born with CDKL5 Deficiency Disorder — which prevents her ...