Phenylketonuria (PKU) Explained
Автор: CheckRare
Загружено: 2023-06-22
Просмотров: 2383
Описание:
Cary Harding, MD, at Oregon Health & Science University (OHSU), provides an overview of phenylketonuria (PKU).
PKU is a rare metabolic disease caused by toxic levels of the amino acid phenylalanine (Phe), which can lead to neurocognitive deficits. Despite two approved treatments, most patients with PKU are either unresponsive to current therapies or these options present unacceptable safety risks such as anaphylaxis. Given that Phe is found in all sources of natural protein, most patients must adhere to a very strict, protein-free diet.
As noted by Dr. Harding, current treatment options are limited and still require patients with this rare condition to maintain a strict phenylalanine-free diet.
A new probiotic therapy, SYNB1984, is in development that may remove the need for patients to adhere to that strict diet.
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