Newborn Screening - CRASH! Medical Review Series

[@xDomglmao]

Thank you very much! 9:00 I wanted to add that there are two new FDA-approved drugs called "tetrahydrobiopterin" (cofactor for phenylalanine hydroxylase) and "pegvaliase" that can be used as an addon to the phenylalanine-restricted diet. 11:00 Afaik at the age of 5 an alternate pathway for the galactose metabolism will be available, hence it would be okay to consume galactose. 19:00 "Betaine is used to reduce concentrations of homocysteine by promoting the conversion of homocysteine back to methionine, i.e., increasing flux through the re-methylation pathway independent of folate derivatives (which is mainly active in the liver and in the kidneys). The re-formed methionine is then gradually removed by incorporation into body protein. The methionine that is not converted into protein is converted to S-adenosyl-methionine which goes on to form homocysteine again. Betaine is, therefore, only effective if the quantity of methionine to be removed is small. Hence treatment includes both betaine and a diet low in methionine. In classical homocystinuria (CBS, or cystathione beta synthase deficiency), the plasma methionine level usually increases above the normal range of 30 micromoles/L and the concentrations should be monitored as potentially toxic levels (more than 400 micromoles/L) may be reached." Wiki :-)

[@biniyammekonnen6983]

thank you so much doctor, step 2 is easy because of you

[@danielawells9549]

I really appreciate your videos. thanks a lot

[@eelivia]

Dr. Bolin, what's the cause of death for PKU?

[@davidrose555]

Please donate to Dr. Paul's Patreon account. Please ask questions like this to Google. Dr. Paul is too busy to answer questions such as this. What are you thinking?

[@davidrose555]

Please donate to Dr. Paul's Patreon account. Please ask questions like this to Google. Dr. Paul is too busy to answer questions such as this. What are you thinking?

[@postbodzapism]

Probably due to the brain damage caused by the phenylalanine or its metabolite that accumulates?

[@mohiuddinalfarra5440]

thanks

[@doaaelsawy451]

Thx