2014 National PKU Conference to Take Place in Salt Lake City, July 10-13

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PKU (Phenylketonuria) is a rare, inherited metabolic disorder that is characterized by the inability of the body to utilize the essential amino acid, phenylalanine (Phe). PKU is caused by a deficiency of the liver produced enzyme phenylalanine hydroxylase (PAH).   When left untreated, PKU patients who […]

Exclusivity: How The Government Keeps Orphan Drugs in Production


Why did the FDA grant BioMarin this permission, known in bureaucratic lingo as a “six-month pediatric exclusivity extension?” BioMarin Pharmaceutical in Novato and San Rafael has six more months to keep exclusively selling a new, kid-friendly form of its drug for a disease called phenylketonuria. Haven’t […]

MAPKUF, Inc. First Annual 5k for PKU

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The Maryland Alliance of PKU Families will be holding its First Annual 5k run on Saturday, March 22, 2014 to raise awareness of PKU and funds for research to help better the lives of those affected by this rare disorder and ultimately find a cure. […]

My PKU Life: Traveling to Other Countries to Advocate for PKU and Newborn Screening

Kevin Alexander, a photojournalist, produced a documentary called “My PKU Life.”

Sao Paulo, Brazil is massive. I looked out over the city a few days ago just before my plane landed. And honestly, massive barely describes it. The Sao Paulo metro area is about 3,000 square miles with a population of around 20 million. It’s the […]

Life Changes: Phenylketonuria (PKU) Survivor Shares Loss of “Mama” Essential to PKU Diagnosis and Care

Kevin Alexander, PKU Survivor

I don’t know when it happened. Maybe it was when I got my first “real” job and the stability that comes with traditional employment. Maybe it was when I graduated college and looked forward to taking a few years off of school before I would […]

Landon Can’t Process Methonine, Which is Found in Protein; Special Diet Controls Homocystinuria

Landon has Homocystinuria, a rare genetic metabolic disease that does not allow his body to process the amino acid, Methonine.

My name is Rachel, and my son Landon has Homocystinuria, a rare genetic metabolic disease in which he can not process the amino acid, Methonine. which is found in protein. This disease can cause developmental delays, stroke, seizures, heart attack, blood clots, several physical deformities […]

In Defense of Newborn Screening – Your Tax Dollars Saved My Life!

Kevin Alexander is PKU (Phenylketonuria) Survivor

A Social Justice Issue OK, I’m just going to be real with you. I’ve tried to sit down and write this particular entry numerous times… But every time instead of clicking “Publish” when I’m finished I clicked “Delete” instead. It just wouldn’t come out right. […]