[Music] welcome back guys now in this video let's discuss about autosomal recessive disorders already we have discussed about the autosomal dominant conditions now in this video we'll be discussing about the autosomal resue disorders see what are the examples of autosomal receive disorders so before going to discuss about the examples of the conditions first you should know that the autosomal receive disorders are going to manifest if if anyone have this diseases these diseases are going to manifest from the childhood itself so childhood onset childhood onset this the first point childhood onset second thing see this autosomal recessive diseases they will have complete penetrance penetrance is going to be 100 % so penetrance is 100% complete penetrance is going to be seen okay what does I mean by you know it so if someone have that genotype okay if someone have the genotype every individual with a genotype is going to manifest the disease it's not like autal dominant diseases I have explained you in autal dominant dises very clearly what is penetrance and expressivity in autal dominant conditions the penetrance is going to be incomplete penetrance here the penetrance is complete if someone have that kind of genotype 100% here he can manifest the disease but autosomal dominant diseases are not like that even though the patient is having the genotype of a disease still he cannot develop the disease still he can escape the disease so that is incomplete penetrance in autosomal dominant conditions here it is incomplete penetrance what about the expressivity in autosomal dominant condition expressivity is going to be wide wide variety of symptoms wide range of expressivity different people with the same disease will Express different types of symptoms okay I'm the one who is having a morphan syndrome and the other person who is having a morphan syndrome my symptoms will be different and his symptoms will be different okay my degree of symptoms and his degree of symptoms will be different expressivity is going to be different AAL reive conditions are not like that expressivity is going to be very narrow almost everyone with the disease have the same kind of symptoms similar kind of symptoms the expressivity the degree of symptoms is going to be almost the same with everyone so expressivity is narrow that is all patients all patients will show same symptoms okay all patients will show the same symptoms now the most important part what are the examples of autosomal reive conditions the example are anything I used to remember something like this anything which ends with the word UA okay so Phile Ketone UA Phile ketonuria so Phile ketonuria alapon nria homoy Uria okay homoy UA see anything which ends with the word Uria emia also okay for example SLE cell anemia CLE cell anemia so these are examples of autosomal restive conditions still many are there but I want you to go slowly with gaps okay so phalon UA alapon UA homos UA homoy UA all these are ending with the word UA so remember these are the biochemical like know these are the biochemistry abnormalities we'll discuss about them so these conditions are following autosomal recessive pattern of inheritance autosomal recessive pattern of inheritance which means the individual have to get this disase from both mother as well as father most of the times mother as well as they are the carriers carriers of this alls and if The Offspring gets this alls he's going to manifest the disease okay now other what are the other examples albinism okay albinism conal hyperplasia okay congenital adrenal hyperplasia where a female is going to look like a male female pseudo hermaphroditism okay con hyperopia where the female is going to burn with enlarged clitorus which looks like a micropenis so these females are thought to be males female pseudo hermaphroditism the most common cause of female pseudo hermaphroditism is a con hyperplasia where there is virilization female is going to look like a male that one that condition next fre attack here Fred reick ATT Axia next Wilson's disease okay hemocromatosis okay hemocromatosis see these are copper overloaded States Wilson this is the copper overload state and hemocromatosis is iron overloaded State okay now one point which I want you to know let's again come back so C cell anemia so what exactly CLE cell anemia you know it okay CLE cell anemia is a condition where the one amino acid is replaced by the other amino acid the glutamate is replaced by the valin because of the point mutation okay in the gene for the hemoglobin see this C cell anemia it's a blood related condition right it's a blood related Condition it's an anemia which is which is autosomal recessive but which blood related condition which type of anemia is associated with the autosomal dominant p pattern which anemia follows the autal dominant pattern heriditary heriditary spherocytosis first disorder I have discussed in the autosomal dominant heriditary spherocytosis anchoring effect round RBC cative cytosis okay so next albinism con hyperplasia attacks disease hemocromatosis okay these are also autosomal recessive conditions next followed by cystic fibrosis cystic fibrosis which was a recent question in the exam cystic fibrosis CFR G mutation chloride Channel defect salty babies okay so that condition thick secretions are going to be seen in this condition next Axia Tasia ATT AIA te inasia okay see attack and attack here two attas are coming FR attacka and attack Tasia see both are autosomal recessive conditions where the patient is going to have the gate abnormalities next fancon anemia fancon anemia next xeroderma Pigmentosa Bloom syndrome next alpha 1 antip deficiency alpha 1 antipin okay alha antipin deficiency which is going to cause Mima so all these whatever I have written over here all these are examples of autal resue conditions Falon UA alapon UA homos UA these three things next albinism congenital adrenal hyperplasia hemocromatosis Wilson's disease fraia attack attack inasia conal hyperplasia Bloom syndrome alpha 1 antirion deficiency fancon anemia next cystic fibrosis these are the important things okay Zer pigmentos so these are the important autosomal reive conditions you have to by heart what are autosomal dominant autosomal reive 10 times 20 times 30 times you have to byard them these things should be printed in your mind okay so autal dant autal resue conditions completed now after this let's continue uh sorry one thing I have forgot okay one thing I have forgot sir not only this a very important take a note sir inborn errors of metabolism okay inborn errors of metabolism what exactly are they the losal storage diseases okay losal storage diseases take a big note lysosomal storage diseases okay and not only this glycogen glycogen storage diseases okay so lysosomal storage diseases and glycogen storage diseases these are also Al coming under autosomal recessive inheritance pattern so what we are discussing I have discussed that the Lal storage diseases okay the lysosomal storage diseases as well as the glycogen storage diseases they follow autosomal res pattern of inheritance see the point which I want you to know is look here most of the Lal storage disorder for example let me write INB bur errors of metabolism okay in Bor errors of metabolism see like lysen sorry glycogen storage disorders losal storage disorders see all of them are going to follow the autosomal reive inheritance pattern they follow autosomal recessive inheritance pattern but there are two exceptions so what are those two exceptions number one is fabis so fabis disease I'll show you which is a Lal storage disorder as well as Hunters not Huntington Huntington is different Huntington scoria is autal dominant condition okay because of the loss of G neur there a totally different condition there is a lysosomal storage disorder called as Hunters Hunters disease see these two conditions they follow X linked recessive okay recessive but all the L glycogen storage disorders and Lal storage disorders they follow autosomal recessive pattern of inheritance but these two conditions which is a fabis disease as well as Hunter's disease they follow exlink recessive pattern of inheritance okay this is a point which I want you to know so now let me show you uh one one more important thing look look here in the L in the L Lal storage disorders see most of the Lal storage disorders okay these are the Lal storage disorders gers grabish disease TX Fab fabis metachromatic liquid distopy neic disease these are the Luc Lal storage disorders right see most of them they follow which inheritance pattern autosomal recessive autosomal recessive autosomal recessive all of them are following autosomal recessive then who is following Auto sorry exlink recessive pattern it's a fabis fabis follow exlink recessive and look here one more Hunter okay Hunter is following Excell res but all other following autosomal resue pattern okay so keep that point in mind so now let's see final cuton UA so where we have discussed anything which with the word UA phal keton UA Al capton UA homos UA autal re pattern so Phile keton UA in this condition what exactly is the problem there is a deficiency of an enzyme called as Phile alanin Phile alanin hydroxy phin Hydrox deficiency is seen there is one more condition called as alcaptonuria in Al Capon condition what is the deficiency see homogenic acid oxidase deficiency homo gen six okay homogenic oxidase okay homogenic oxidase deficiency so because of the deficiency of this homogenic oxidase there is accumulation of homogentisic acid okay this homogentisic acid will start to accumulate in the body parts it will go and accumulate in the cartilage which is making going to make the cartilage little blackish in color or brownish in color okay so this condition is called as the deposition in the cartilage homogenic acid oxidase is deficient leading to homogentisic acid accumulation in cartilage this condition is called as osis okay this condition what we call it as chosis okay acronis so acronis is seen in which condition it's the discoloration of the ctil is the discoloration of the cartilages due to accumulation of homogenic acid seen in Al capto and Ura now let's discuss about some lysosomal storage disorders okay TXS TX disease see in this Tas disease what's the problem there is deficiency of hexo amas so hexos amas a deficiency okay so there is this enzyme which is called as EXO it's going to break for example let me put it this way look here in the Lal storage disorders see TX normally the gm2 ganglioside okay the gm2 ganglioside was supposed to be converted into gm3 ganglioside gm2 should be converted to GM gm3 ganglioside with the help of an enzyme called as ex a when this exos a is not there it will cause which disease TX so in which gm2 ganglioside is going to get accumulate within the cells within the lome see within the lomes gm2 ganglioside is going to get accumulated okay so look in TX let's see where exactly is TX yeah here see in TX what are the important Point yes it's of course it's isal stage Disorder so autal rece inheritage pattern so there is decrease in the he so because of which the gm2 gangoy levels are going to be elevated so gm2 gangliosidosis we call it as a gm2 gangliosidosis okay so in this condition what happens the two important points which I want you to know is see there is the developmental delay in the baby from birth itself and cherry red spot is going to be there if you look at the lomes under the microscope because of the accumulation of this gm2 ganglioside within the lomes it's going to show the onion ring pattern okay onion skin appearance the onion ring like appearance is going to be seen within the lomes okay so it's a progressive neurod degenerative condition of course yeah neurons are getting degenerated motar losses will be seen developmental delays are going to be seen cherry red spot is going to be seen within the retina and lomes are going to show the onion skin pattern okay so let's see this one by one points again here itself come on guys see this is the these are the two funny slides which I have found it in the internet I hope this will be helpful for you so TX disease where the neurons are getting degenerated it's a neurod degenerative condition see the the neurons are getting degenerated okay so if you look at the neurons within the neurons the onion skin lomes are going to be seen see there is accumulation of gm2 ganglios sites okay now what else you have to know see there is hexo a deficiency gm2 ganglioside accumulation so in the retina you can see the cherry red spot you can see the cherry red spot the neurons are getting ballooned out okay the neurons are getting ballooned out and there is uh like subsequent neuro degeneration will occur okay there is ballooning of the neurons see there is onion skinning these lomes are going to show onion skinning pattern okay so developmental delay in the baby okay hyper reflexia are going to be seen that's the point which I want you to know see here also see in TX disease there is cherry red spot see there is developmental delay okay and see there is Progressive motor and mental and visual deorations can be seen all these are the features of the neuro degeneration actually okay so TX disease is completed now after Tac disease the next disease which I want to discuss the next Lal storage disease it is Neiman piix in Neiman piix the points which I want you to know look in nean pigs yes of course it's autosomal resue condition no doubt it's seen in Ash as the Jewish people mainly the Asen as the Jewish population is going to be seen what is the deficiency sir which losal enzyme deficiency is going to be seen it is sphingo deficiency spingo deficiency is going to cause an human PX disease see the name itself is a Singo milin it's going to break down the swingo milin as the swingo is the deficient swingo milin will accumulate there is accumulation of the Singin okay so what are the clinical features of course it's a progressive neurod degenerative conditions yeah neurons are going to get degenerated okay cherry red spots are seen which means the cherry red spots are not only seen in the before condition that's a t a but Cher red spots are also seen in the neon pic but it's it's also going to be seen some other conditions also true so cherry red spot is not something specific to T ax it's going to be seen in multiple conditions for example here I have given the list see the Cher red spots in the retina it's going to be seen in TX this is true but also going to be seen in Nan PX it also seen in gers and Central retinal artery occlusion okay Central retinal artery occlusion C AO CRA Okay C Central Lal arter ollusion you can see the ched spot nean disease TX disease gers disease in all these conditions even trauma it can be seen okay so that's not something specific again important points about the Nan PX disease Nan PX disease Singo deficiency accumulation of the Singin going to going to show the Cher red spots Hep spomal this is something important hepat spomal which Lal storage disorders are going to be assed with the Hep spomal neon piic neon piic and what else can be seen under the light microscopy not the onion okay onion skin appearance is going to be seen in TX here what you will see gibra Bodies Okay jbra bodies jbra like nobra the stripes which are present on the gibra that kind of appearance is going to be seen I will show you see this is like a gibra lines okay so within the lysosomes you can see this jebra Crossing appearance so those are called as a gibra bodies so again let's come back to our table here look now we are discussing about nean pix right see in the nean Pix area it's out of re condition okay decrease fom is Singo is getting accumulated within the neurons within the lysosome so neuro degeneration can be seen yes Progressive neuro degeneration see Cher spot is seen Hep speno meali important Hep spomal is seen what you will see under the light microscopy or electron microscopy is the GI Bodies Okay GI bodies are going to be seen so after n piix the next disase which was a recent question in the exam that is G's disease okay gers disease now in this gers disease the every time this one question will come see how the cell is looking like the cell is looking like crumpled tissue paper you just take a tissue paper you just use it how it will look like it's going to look like crumpling okay it's not going to be even it's going to have lots of FS right so this is like a crumpled tissue paper the used up tissue paper so crumple tissue paper appearance is going to be SE in G disease this G disease is because of what it's because of deficiency deficien of which enzyme which Lal enzyme beta glucos cerebrosides beta gluco cerebro cides okay it's due to deficiency of beta glucosides deficiency okay the cells are also called as this cells which I'm showing you the cells are also called as gure cells the pain these patients are going to have the main bone problems bone pain that's the main problem okay bone pain is going to be there as well as hepto spleno megali Hep spomal is going to be positive so in gous disas what's the main problem in GES disease the main problem is bone pain so bone pain bone pain these patients are going to have the bone pain hpos spomal is going to be seen comple tissue paper appearance due to deficiency of beta glucose cerebrosides okay so let's come here to the table our table see here let's go for the Gess disease see first disease gous disease autosomal reive condition what you will see beta glucos serositis is going down so accumulation of glucose seryes okay glucose seryes are getting accumulated hypos spomal is seen developmental delay is seen but the point which I want you to know is bone crisis this is the key word bone pain bone pain okay hpos spomal bone pain with the gure cells which will show crumpled tissue paper appearance okay so because of the bone related problem these patients are also going to have a vascular necrosis of the FEMA a vascular necrose of the femur that's that's what is going to cause a pain bone pain okay so these are some important points which I want you to know all the Lal storage disorders are autosomal recessive except two one is fabis other is hunters fabis and Hunters these are exin recessive that we will discuss in the exlink reive disorders so with this we have completed the autosomal reive disorders again I'm telling you what are the important autosomal res disorders which you should know is all uas phal keton UA Al Capon UA homos UA okay and CLE cell anemia is going to be seen one anemia condition CLE cell anemia albinism conal adinal hyperplasia fraia Ataxia te inasia fancon anemia cystic fibrosis xera Pigmentosa Alpha 1 anti deficiencies leading to empa Bloom syndrome Wilson disease and hemocromatosis these are the important diseases which I want you to know okay for sure you should know these disorders along with lysosomal storage disorders and glycogen storage disorders as autosomal recessive disorders point which I want you to know is one more Point usually who will get this autosomal reive disorders see autosomal recessive disorders are seen in the children who burn okay see the children who born to the couple who married within the families for example there is conc sanguinity within the families they are marrying okay within the families with the close relation they are marrying so whenever there is a marriage this is called as a consanguinity consanguinous marriages okay consanguinous marriage so in those couple who are having the consanguinous marriage their babies will get this kind of diseases their babies will get L St dises as well Asen stage diseases okay so that's why it's always ad is not to go go uh marriage within the families because of this Auto resue conditions okay and every generation will be affected whenever the patients are having the autosomal reive conditions uh not sorry autosomal dominant conditions every generation is affected in autosomal recessive diseases not every generation is affected skipping there is skipping of the generation okay there is skipping of the generations okay so one generation will be normal one reg generation will be affected one generation will be normal the generation subsequent Generations will be affected that's the skipping skipping of the generation is SE in autosomal re pattern every generation will be affected in autosomal dominant pattern okay that we will discuss anyway in the pgre analysis so with this we have completed the autosomal re disorders in the next video we'll discuss about xlink dominant as well as xlink res thank you