Dokter Blog: from the desk of Rahajeng Tunjungputri

Medicine et cetera by @ajengmd

Phenylketonuria and Lecture on Inborn Error of Metabolism

As I am writing this I am highly distracted (and disturbed) by the news on TV about a corruption suspect trying to get away from the country for a “medical check-up”.

Let’s just focus on medicine and patient care for now.

Today we had a visiting lecturer from Jakarta, Dr. Damayanti Rusli Sjarif, PhD, SpA(K) about inborn error of metabolism in our Genetic Counseling master programme. The lecture itself was insightful and as most lectures from our visiting lecturers (because they only visit once every semester) is highly dense with information.

What is most interesting is the fact that there are quite a lot of cases of inborn error of metabolism in Indonesia, and since diagnostic examinations for these diseases are most of the time not available in Indonesia, many patients go undiagnosed and therefore untreated. We can never say that it’s not that particular diseases, when we don’t know whether it’s that particular disease or not. Which brings me to quote House of God, a book by Samuel Shem, where the main character said, “If you don’t take a temperature, you can’t find a fever”.

As a part of the lecture we had to prepare and present a case about phenylketonuria.

And here is my presentation (with some corrections after the lecture). As usual, it’s the picture below is linked to the presentation.

As usual, the presentation include some images from other references, no copyright infringement intended. Until next time.

Regards,

Ajeng

Filed under: miscelaneous, , , , , ,

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Disclaimer

Medicine is a growing field, and information presented here is reflective of the time of posting. Please refer to your physician for direct medical consultation. My views do not reflect those of my employers. --
Regards, Rahajeng

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