It's smell nice,but does it really good to you?

Assalamualaikum W.B.T,

Alhamdulillah,Allah have give an oppurtunity to share some fact that i learn before.InsyaAllah it will bring benefit to you guys.I'll try to deliver it in much simpler way,so that all of you can understand it well,and perhaps spread it to others with Allah will.

Usually when we heard something nice,then we expect to get a wonderful effect from it.For example when a car looks good from it appearance,then we expect it also come with great perfomance.But,it never always happen like that.I'm sure some of you might facing a situation when the appearance is good,but the perfomance of the car is really bad.Same goes here about what i'm gonna talk about

Have you heard about a disease called Phenylketonuria(PKU)?Let me tell you about it...It is a disease that result in fruity odour urine.Sounds good right?But,you have to admit it,it is a disease...This disease occur because of Inborn Error Metabolism(IEM).You can take a look at pathway I provided below:-



This disease occur when an enzyme called Phenylalanine hydroxylase is lack.In the pathway above,all the blue box is a NORMAL pathway,while the red box is the ALTERNATIVE pathway.Thus when the reaction can proceed in normal route(because lack of enzyme),it then diverge to enter the alternative route.Entering the alternative route resulting in formation of Phenylketones(Phenylpyruvate,phenyllactae & phenylacetate).Increase formation of phenylketones result in accumulation of it,thus excess phenylketone will be excrete in the urine of the patient.Presence of this phenylketones in the urine that result in fruity smell of the urine since one of the characteristict of it is this fruity smell.

How to diagnose this disease,simple!
1.Presence of Phenylketone in urine(by undergo urine test)
2.Just smell it!

The worst that can be expect from this disease is mental retardation

Treatment:-
1.Give Tyrosine supplement(Since the pathway have diverge from normal route,thus it might cause low level of tyrosine than the normal level).
2.Restrict intake of Phenylalanine from diet(To prevent accumulation of phenylketones)
3.Enzyme substitution with Phenylalanine amino lyase(PAL)(This will convert Phenyalanine to non-toxic derivatives,instead of phenylketones)

*Pathway given above is not complete,just want to give simple overview to all of you
*With Allah will,i'll try to explain regarding others IEM disease after this...

Akhirulkalam...