 So good morning good morning good morning good morning good morning good morning so welcome back to my channel so hello everyone so welcome back to another video discussion that we will be having so that they am very excited to share something new to you again so again welcome back to all of you so welcome back and i hope that you will be enjoying our discussion for this morning so let's dig into our topic for today and what i will be sharing is actually quite interesting for us today so let's dig into our topic and that is all about your r.a.92 88 also known as the newborn screening act of 2004 so this is a republic act here in the philippines when starting about the newborn screening of our newborn obviously so um as we go along i will be discussing and will be sharing to you what what are the things that are very much important with regards to this law but before we go deeper into that this is actually the outline of everything that we will be discussing so first we need to define what is a newborn screening or is all about secondly we will be talking about the inborn errors of metabolism which are actually the diseases the disorders that we try to detect or we try to screen during this examination and at the same time we also have the r.a.92 88 which is the law that we have here in the philippines and also some updates regarding that so for this video i will actually be discussing the first two the newborn screening and inborn error of metabolism i will be going to separate two i will be going to separate this video into two so that you won't be you can actually have time in between or a break in between because you can see most of my videos i aim to have it around 25 to 30 minutes so sometimes i i exceeded i am exceeding 30 minutes but my goal is actually to only have it around 20 to 30 minutes because i myself is using the pomodoro technique when i was when i am studying even up to now so that's the reason why maybe some of you are asking why can i not just upload the video of the entire hour that i am discussing that's the reason why i actually want to do it like a pomodoro technique so in between videos you can have your break you can go surf the internet for a while and then come back after your short break so let's dig in so more about those techniques that i do in the future videos that i am i'll be doing so i'm actually thinking of making videos regarding my study techniques specifically right now i am actually practicing a new study technique which i will be sharing to you very very soon and i'm excited about that so let's move on so first is newborn screening so newborn screening what is newborn screening all about so newborn screening or nbs we will be you will be seeing nbs not national bookstore but you will be seeing it much in this power point so is a public health program aimed at a early identification of infants who are affected by a certain genetic metabolic or infectious condition so what we aim here is actually to detect a particular abnormality or a particular condition in our patients so most of the time okay most of the time there are actually infections or this genetic disorders that can actually that needs to be identified early stage of their life to avoid irreversible damages not just mentally but on the holistic um uh growth of a person so early identification we're talking about that and it's very crucial when it comes to newborn screening because early identification and timely intervention can lead to significant reduction of morbidity the cases of um diseases and of course mortality and associated disabilities and affected infants so it's very important that we have it here immediately and it's very important to reduce morbidity mortality and possible or preventable disabilities because of those diseases so our newborn screening enabled early detection and management of a certain metabolic disorder so that is our goal so as you can see on your right and your screen you can see a baby with a um who are who is actually undergoing your newborn screening test and it is very important again we're talking about um early detection so that we can actually manage the situation manage the condition of the the patient more efficiently at the same time the reason why we have the newborn screening at the very young age is because if left untreated this may lead to mental retardation and worse to death okay worse to death so the early diagnosis and treatment of these disorders assures the child's right to live and safeguard him or herself to reach his or her full potential so what about this now so again we're talking about newborn screening and i i want to show you something okay i want to show you something so here is actually a famous photo so if you have um cross the internet regarding the newborn screening you can actually see much of this photo so as you can see these are two individuals these are two children two kids that you can actually see and they are actually the model of the newborn screening to be exact both of them okay both of them actually has a congenital hypothyroidism or your ch which is one of the disease or disorder that is actually being detected using your newborn screening test and i just want to i just want you to look at them closely so one this girl here is actually the one that underwent newborn screening test and this kid here was not able to have himself checked during um when he was born and eventually he developed or he had the irreversible effect of congenital hypothyroidism so what i'm trying to say here is that undergoing newborn screening test would not just save a life but would save or would improve the the quality of life of an individual greatly as you can see this girl here as opposed to this kid this boy this boy here you can actually see the difference there and if you're gonna if you're gonna realize it if you're going to reflect on it it actually the only difference between these two kids is that one got the test and the other one did not have the so as simple as that as simple as that difference between the two you can actually see how great the difference is for them that is why newborn screening test is very important it is very needed to avoid and actually to prevent preventable disorders preventable um diseases or abnormalities in our children so asking now now that we discuss the newborn screening so much about it is that what are we checking during the newborn screening what are the diseases what are the disorders that i am trying to check that my patient might actually have because of um certain abnormalities or genetic problems this are now the inborn errors of metabolism yeah those street droplets there are actually very much excited and maybe you are too so let's dig in so the error inborn error of metabolisms are these six and the former um law and the former law the newborn screening act of 2004 this six are actually mandated to be tested on all newborns so this six so i'll be giving you an updates later on as we discuss this but more importantly in the inborn error of metabolism we actually have six major um disorders that we checked first one is your congenital hypothyroidism the one that our models had before so we also have your congenital adrenal adrenal hyperplasia we have your phenylketinuria your galactosemia your glucose six phosphate dehydrogenase deficiency and your maple syrup urine disorder so this six are actually the most commonly checked um inborn errors of metabolism so i want us to go through each of the six and so let's move on so for the inborn error of metabolism the first one is your congenital hypothyroidism also known as your creatinism so this is the this is a condition whereby newborn babies who are who are newborn babies are unable to make enough thyroid hormone because they have your congenital hypothyroidism so thyroid hormone is very important because if you're gonna go into your endocrinology okay in your endocrinology again what what what organ produces your thyroid hormone obviously ladies and gentlemen it's your thyroid of course so your thyroid your thyroid hormone to be exact is plays a very important role when it comes to growth and metabolism so that is very important aside from that aside from congenital hypothyroidism we also have your congenital adrenal hyperplasia and people with congenital adrenal hyperplasia lock one of the enzymes needed for proper function of your adrenal glands so you all know that your adrenal glands could be divided can be divided into your adrenal medala in your adrenal cortex so your adrenal cortex is further divided into your zones your gfr your zona glomerulosa fasigilata and your zona reticularis and of course your your um adrenal medala so it's very important because when you lock one of these enzymes either your 21 hydroxylase 11 hydroxylase or your 18 hydroxylase your um adrenal glands cannot function properly and eventually all other hormones that are also produced in your adrenal gland be it your your your mineralocorticoids your thyroid hormone some of those precursors could no longer be produced because of this deficiency so that is very important so aside from that we also have your phenylketinuria your phenylketinuria these are now babies with missing enzyme called your phenylalanine hydroxylase this enzyme your phenylalanine hydroxylase is very important for the breakdown of essential amino acids called your phenylalanine which is actually usually found in your milk and most of the um in cases of phenylketinuria you can actually um see babies actually that are having musty or musty other urine okay so musty other urine so you can actually observe that much in our babies and in our um patients with pku or your phenyl um your pku okay your phenylketinuria so aside from that okay aside from that you also have your galactosimia so by its name galactosimia it has to do with your galactose again a a major protein a major sugar rather a major carbohydrate of your your your breast milk which is lactose that is glucose and galactose so an inherited metabolic disorder costs an enzyme deficiency and is transmitted as a recessive trait so it results in the accumulation of your sugar galactose within your body and usually the the main or the most common enzyme deficient with our patient with galactosimia is actually your galactose one phosphate uridil transferase or your galt one so the moment that you lock this particular enzyme you'll actually start to experience deposition or accumulation of sugar glucose within your body and you don't like that because if it remains there it can actually cause some abnormalities and malfunction within your system so we have discussed the first four but let us go first to your phenylketinuria your phenylketinuria again the deficiency in your phenylalanine hydroxylase so we actually have a screening test for your pku which is actually your ferric ferric chloride tube test so what will you will you use is the urine of your patient and add five percent of ferric chloride and you would actually observe if there is a production of a permanent blue color blue green color in the patient urine so if there is a blue green color that is positive meaning that patient actually um that patient is not able to metabolize your phenylalanine further that's why in your ferric chloride test it is testing positive aside from that we can actually also have your your gut three bacterial inhibition test i am kind of sorry because i think the photo is blocking a letter here but it's still here by the way so in your confirmatory test the confirmatory test for your phenylketinuria and i want you to master and really take down notes when it comes to your pku specifically your gut three bacterial inhibition test because it's very important and eventually some of the confirmatory tests in other inborn metabolic diseases are actually mit modification of the gut three test so let's move on to the gut three bacterial inhibition test so what we have here is a bacillus subtilis in a culture okay a bacillus subtilis in a culture with beta two phenylalanine so as you can see take for example look on your right this is actually the um the petridish your plate with um with your bacillus subtilis so your bacillus subtilis is actually exposed to your beta two phenylalanine and what is what does your beta two phenylalanine does it actually inhibits the growth of your off your bacillus subtilis so originally if your your um bacillus subtilis is in contact with your beta two phenylalanine there will be no growth okay there will be no growth but again for patient with pku what happened is that there is an increased amount of phenylalanine because you don't have the the enzyme to break it down further so an increased amount of phenylalanine in your patient would actually counteract the action of your beta two phenylalanine and that is the job of your phenylalanine it actually counteracts the inhibition of your beta two phenylalanine and if that's the case you will be having a growth and a growth means a positive result a positive result means with growth meaning your beta two phenylalanine was inhibited by an increased amount of phenylalanine found in your patient's specimen meaning your patient is deficient of a particular enzyme causing him now or her to have your phenylketinuria are we clear so i just want you to really um study your ferric chloride and your gut three inhibition test more all right so moving on we also have your glucose 6 phosphate dehydrogenase deficiency which is actually one of the most common um inborn errors of metabolism so your g6pd as i call it is recognized as an important enzyme in glucose metabolism because if you're gonna go to your glycolysis you can actually see that g6pd is one of the first enzyme that will actually participate in your glycolysis and again glycolysis is very important not only that your g6pd also is a um a key factor in the oxidate in the maintenance of the integrity of your red blood cells okay so going on now what we have here is that there is a deficiency obviously of a particular enzyme which is your g6pd okay so in its its deficiency is commonly associated with a number of hereditary disorders so like kota i'm mentioning a while back g6pd maybe among the six is one of the most common okay so we also have your msud or your maple syrup urine disease it's it is now a metabolic disorder caused by a genetic mutation that inhibit the breakdown of certain amino acid and maybe you're wondering why do we call it maple syrup um urine disease simply because your urine actually smells like a maple syrup that you put on your pancake so maybe you're having your breakfast today and you're having pancakes and you might actually want a maple syrup not msud of course but a maple syrup to go with that for this morning so those are the six um error inborn errors of metabolism that i will be discussing for you this um in this in this video so moving on and moving on when it comes to your maple syrup urine disease so one of the most probable cause is that there is a deficiency in a branch chain amino acid enzyme which has increased either in your leucine isoleucine or your valine in your blood or in your urine so these are actually the most common um amino acid that is not metabolized properly because of msud so what you do is actually to have a screening test using your two four dinitrophenyl hydrazine test which actually is a screening test so if there is a positive if there is a yellow turbidity or there is a yellow precipitate that would mean man you're positive with um msud but you still go need to go and perform confirmatory test using your amino acid chromatography all right so that is that is for your msud so we discussed about your congenital hyperthyroidism congenital adrenal hypoplasia we have your um phenylketinuria we also have your your g6pd we have your maple syrup urine disease okay i'm sure i'm missing one i'm missing one i'm missing one so what is that other one that i am missing pq and of course let's go back i cannot remember it though we have your galactosemia there we have your galactosemia so those six are the most common um those six are actually the the six disorders or errors of metabolism mandated by the law to be tested for all our inborns all right so so much about that we discussed your newborn screening we discussed your inborn errors of metabolism so now for now i will be saying goodbye and i want to leave you with this um quote by martin luther king junior saying intelligence plus character that is the true goal of education so i hope you had a great day you have a great time with our discussion so thank you so much if you have questions please do leave your comments down below or email me on my email so thank you so much this has been jo mer adam so please do like share and subscribe to my channel for you to be able to get the latest um happenings and for you to be notified for my latest um upload so i will be up um the next part we'll talk about now your law so i hope that you learn something and i'll see you on our next video