#Alkaptonuria

[theindianpharma]

Can the color of urine in Alkaptonuria vary?

Yes, the color of urine in Alkaptonuria can vary from dark brown to black, depending on factors such as hydration level, diet, and individual metabolism. However, the presence of homogentisic acid typically gives the urine a noticeable dark hue. Alkaptonuria is a rare genetic disorder characterized by the body's inability to properly break down certain amino acids, leading to the accumulation of homogentisic acid. This acid causes the characteristic darkening of urine upon exposure to air. Despite its distinct coloration, urine in Alkaptonuria is typically painless and odorless. The condition can be managed with dietary modifications and symptom management, but the cornerstone of treatment often involves the drug Nitisinone. It works by inhibiting the enzyme responsible for the production of homogentisic acid, helping to reduce its levels in the body and alleviate symptoms associated with Alkaptonuria.

[onlyhurtforaminute]

EXITING MORTUARY-THE DEAD SERVE THE LIVING

[tenth-sentence]

A third definition of the gene starts in 1902 with De Vries's contemporary, the English doctor Archibald Garrod, who rather ingeniously identified the first single-gene disease, an obscure ailment called alkaptonuria.

"Nature via Nurture: Genes, Experience, and What Makes Us Human" - Matt Ridley

[teachingrounds]

"Phenylalanine is a primary amino acid that is abundant in dietary protein. It's main metabolic pathway yields the amino acid Tyrosine, which is involved in the production of Melanin pigments. Defects of enzymes responsible for interconversion of metabolites in the pathway are the cause of three well-studied, single-gene Inborn Errors of Metabolism: Phenylketonuria (PKU), Albinism (Melanin deficiency), and Alkaptonuria (excess HA)."

(C) 2010 P.J. Russell, iGenetics 3rd ed, (c) 2014 by Steven M. Carr.

[patricia-von-arundel]

Man, some folks need to read a book or two on the history of medicine.

Try Roy Porter, Carole Rawcliffe, or Steven Cherry. There are also great articles often available for free on Pubmed. If not, email the first author - they'll get it to you.

(Hey, did you know the debate about whether consciousness was stored in the heart or the brain continued until the 18th century? And that the father of neuroscience, Santiago Ramón y Cajal, lived until the 1930s? That an understanding of Mendelian genetic inheritance in humans - an "inborn error of metabolism" - was postulated based on a family in London with Alkaptonuria, aka "black urine disease," and that that research was not published until 1902 (by Archibald Garrod). Between 1902 and the present, basically everything we know about chromosomal-level genetic inheritance and mutation was discovered? Did you know that the reason calico and tortoiseshell cats are always female is due to the presence of Barr bodies, which is an inactive X chromosome, and this can also be seen in humans, including in males with Klinefelter Syndrome [XXY] and in sterile male calico/tortoiseshell cats? And that even more rarely, a male calico/tortie is not sterile?)

(Do you know why the Hippocratic Oath is called the Hippocratic Oath? Who Galen is? The age of the oldest known eyeglasses? The four humors, and what they were believed to represent? Why medicine stagnated during the first few centuries of Christian dominance in Europe? What the link is between sickle cell anemia and resistance to malaria? What is the modern treatment for bubonic plague? Who Phineas Gage was? What animal Luigi Galvani used to study the role of electricity in neural connections? Who frickin' Rosalind Franklin is???)

Seeing that post about arguing against there not being enough research into hormonal and surgical treatments for trans men and women... Man. That one hurt my head.

Since 1990, we've learned how to keep HIV all but dormant and to stop it passing from a parent to child. Chemotherapy for cancer treatment was first developed in the 1940s, and radiation is actually older than chemotherapy. Hemophilia B can be treated now quite simply by injections and transfusions to introduce Factor IX, a clotting factor, when before the 1950s it was a death sentence. The structure of DNA wasn't discovered until 1953 - now, students in basic biology labs can play around with splicing and inserting sequences into genetic codes!

My point is... a lot of what we understand about medicine has, for various reasons, only become established and accepted in the last 200 years or so. And with gene therapy, it's likely to explode again.

Read up on the history of medicine. Especially if you question its use in certain people to help them physically become who their conscious mind knows they are. You might learn something!

And honestly, the history of medicine is insanely grim-and-gross fun. If you're into that. 😉 The Mütter Museum is also out there!

[killerandhealerqueen]

Yeah, that's called decomp/mummification

Um...bones don't turn black because of poisoning...they only turn black if they have a rare genetic condition called "Alkaptonuria"...or unless they've been badly decomposed/mummified, like I said

[squadrah]

From My CuriousCat

"What would each member of La Squadra be like as old men?"

Risotto: His joints act up due to his alkaptonuria, and he has become hard of hearing. Is a very laconic old man, constantly gnawed by guilt because moving about is painful and his strength is ebbing away. Will still doggedly do his chores and cook, but has to rest more and more afterwards. Appreciates sign-language users immensely.

Formaggio: Aged well all things considered, though the smoking and drinking binges definitely didn't help. Maintained his social streak so he's often seen around town, cajoling the young folks and imparting street smarts and anecdotes. Enjoys sitting out on benches and chatting up acquaintances that pass him by.

Prosciutto: Mourns the loss of his good looks, but remains an extremely sharp dresser, and his aura is still as intimidating as ever. Has taken to using a cane as a walking aid, and appreciates the aesthetic as well. By now he sleeps an hour longer than he used to, for five hours total. His mannerisms are still the same.

Pesci: Has aged much better than most of his friends, mostly due to having no health issues aside from Turner syndrome. Started dressing more modestly, but never stopped wearing coats. Longs more and more to be in nature, far away from the bustle of the city. Maintained his excellent aim but his timing is not what it used to be.

Ghiaccio: Has aged the best, mostly because of constant exercise. Very fit for an old man, will chase you down if you start anything, and still has the vocals to yell loud enough for the entire block to hear. Has not stopped stressing, you can tell from his receding curls, but is more at peace with himself than he was in his youth.

Melone: Has lived long enough despite his comorbidities, and now just spends his time researching and sharing whatever he finds with whoever is around to listen. Plays games on Baby Face to keep his mind active, and goes about on a mobility scooter. Has to take so many pills it almost qualifies as a meal.

Illuso: The most crotchety old hypochondriac you can imagine. Still keeps to himself most of the time, but his growing obsession with illnesses and dying has forced him to make some strides in socializing. Vents and gossips like nobody's business. Has given up on decluttering his home and it is slowly consuming him.

Sorbet and Gelato: They would grow into a pair of extremely adventurous oldies that never stopped going about and causing a ruckus, intentionally or otherwise. Because mischief apparently keeps you young, they are in great condition for their age. Gelato has dentures, but he managed to keep his full head of hair (he's the envy of the whole group as you can imagine), while Sorbet has to keep making adjustments to his already prominent widow's peak.

[dratefahmed1]

#alkaptonuria #Triad #medical #no1doctor #shorts #frcs #doctorstrange2 #mrcs_uk #dratef #MCQS #top

source

[scentedchildnacho]

Uhm so at the mental house in Gainesville Florida the men had these very lewd if without drugs protein habits that proved they had some homicidality to them Kenny would eat all the eggs like women don't exist......so I have had to formulate different habits to steal from or they don't pay the demigods

It use to be mine or women's to do so now some homicidal steals all my stuff with a marijuana budget into his house and tries to forcibly marry me

So anyway I was feeling so old and wrinkled and joint achey I ate the whole bag of enzyme keto buns with canned pizza sauce in one go....

Anyway my gaming online technology drug study was really hyper activating my mind and I was getting a bright neon yellow spot on my underwear guard so the enzymes stopped that alkaptonuria and strength loss....

The sick orphan children need mental aids because not much more is done then their infectious disease control so I do it so I can learn to addictively feed them for a job...

Amazon breast cut off people so I want to go help the nuns feed the orphans

Well I can't eat a whole bag of bread all the time so I probably will have to use my online game coins for an enzyme supplement....

Enzymes I maybe am somewhat of a latinx then

[askaltr114209]

Buddy, anti, dude, insides don’t magically change colour per person. My guy. What the actual fuck do you think humans are like?

-Antis feet anon

Clearly ye need ta do some medical research~ Different diseases can change de color of yer organs Why don't we infect Doc wit' somet'in fun and see what color his heart changes~ I'm personally a fan of Alkaptonuria 

[theindianpharma]

Diagnosis and Early Detection

The diagnosis of Tyrosinemia Type 1 involves a comprehensive clinical assessment and specialized tests. Early indicators often include failure to thrive and hepatomegaly. Definitive diagnosis typically involves detecting specific tyrosine metabolites and succinylacetone in urine samples. Measuring FAH enzyme activity in liver tissue or conducting molecular genetic testing for FAH gene mutations confirms the diagnosis. Newborn screening programs measuring succinylacetone in blood spots have also proven effective in early detection, facilitating timely intervention.

[drawittoknowitmedical]

Review key concepts of Alkaptonuria with this Flashcard from our USMLE/COMLEX 1 course! 

[forensicfield]

Change in Skin Color Due to Poisoning

Change in Skin Color Due to Poisoning Some poisons cause a change in skin color after ingestion, inhalation or exposure. Some of them are following:

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[invictus1997]

World's Most Ultra-Rare Diseases

Rare diseases are often serious, chronic and life-threatening conditions. WHO defines a rare disease as often debilitating lifelong disease or disorder with a prevalence of 1 or less, per 1000 population. However, different countries have their definitions to suit their specific requirements and in the context of their population, the health care system and resources.

Here are some rare diseases you should know about.

Proteus syndrome

Proteus syndrome is a rare condition characterized by overgrowth of the bones, skin, and other tissues. Organs and tissues affected by the disease grow out of proportion to the rest of the body. The overgrowth is usually asymmetric, which means it affects the right and left sides of the body differently. Newborns with Proteus syndrome have few or no signs of the condition. Overgrowth becomes apparent between the ages of 6 and 18 months and gets more severe with age.

Stone Man syndrome                                    

Stone Man syndrome or fibro dysplasia ossificans progressiva (FOP) is an extremely rare (1 in 2 million) genetic disorder characterized by ectopic ossification of the skeletal and connective tissues leading to progressive fusion of axial and appendicular skeleton. Surgery and anesthesia induced trauma can lead to disease flare-up if due precautions are not taken and disable the patient further. However, rarity of the disease may lead to its common misdiagnosis and anesthesiologist may be caught unaware.

Ribose-5-phosphate isomerase deficiency 

Ribose-5-phosphate isomerase deficiency is a human disorder caused by mutations in ribose-5-phosphate isomerase, an enzyme of the pentose phosphate pathway. In the search for an explanation for this rarity, it has been found that the patient has a seldom-seen allelic combination.[2] One allele is a non-functional null allele, while the other encodes for a partially active enzyme. Furthermore, the partially functional allele has expression deficits that depend on the cell type in which it is expressed. Therefore, some of the patient's cells have a considerable amount of RPI activity, whereas others do not.

The molecular cause of the pathology is not fully understood. One hypothesis is that ribose-5-phosphate may be insufficient for RNA synthesis. Another possibility is that the accumulation of D-ribitol and D-arabitol may be toxic.

Alkaptonuria

Alkaptonuria or black urine disease, is a very rare inherited disorder that prevents the body fully breaking down two protein building blocks (amino acids) called tyrosine and phenylalanine. It results in a build-up of a chemical called homogentisic acid in the body. This can turn urine and parts of the body a dark color and lead to a range of health problems over time.

[squadrah]

what race/ethnicity do u head canon the la squadra members as?!

I love the little ?! at the end, this is a hot scoop!

Disclaimer before I begin: This is one of those aspects where I am delighted by a wide variety of interpretations because I know how personal these choices can be, and I especially appreciate and endorse folks who headcanon these characters as Black or POC given how racist the JJBA fandom can get (on Twitter I have definitely seen a lot of disgusting and disgraceful behavior, and I can only hope that different platforms can do better.)

Now, I usually take canon as is and go with what I see, but given that Araki has also made some terrible choices in the course of the manga (if your first ever Black character is named Smokey Brown, you have fucked up), I decided that I would rather indulge in some variety. For reference, here is my La Squadra art meme:

I'll go through this one and give you my thoughts as I go.

Risotto: Canon is alright, but I am especially fond of Black Risotto with very dark skin and light hair because it looks great on him. I always roll with him being Sicilian, but I could see him bringing in say, Dominican heritage due to the fact that I tried to logic out his eye situation (I like this sort of research to flesh out characters more) and ended up giving him alkaptonuria, a condition that is especially prevalent in the Dominican Republic.

Formaggio: He is interesting to me because he's the only one where I hate his anime color palette (the clothes especially), so please do anything but give him his anime hair color. The light olive skin they gave him I do approve of, because while I enjoy a nice pale skin + red hair + freckles Formaggio, to my mind he is definitely a person of color. Black Formaggios are lovely, but my own heart of hearts headcanon is his being at least part Romani.

Prosciutto: I personally roll with pale, almost translucent skin + platinum blond hair + dark blue eyes because I really enjoy the cursed porcelain doll vibe that combination gives me, but I will take any iteration (I was drawn a gorgeous Black Prosciutto one time and I treasure it), anything except for a white Prosciutto that is also racist or bigoted because we are already dodging a deadly bullet here. I have no strong opinions on ethnicity otherwise, because to me his being an otherworldly cryptid is way more important.

Pesci: I drew him white because I just really liked the way he looked with those big round eyes and rosy cheeks, but I have seen other interpretations and they all look great. Again, no strong preference here.

Ghiaccio: Because of his hair I definitely lean towards him being a person of color; my portrait of him does not reflect this very well, but if I had to redo it, I would definitely go that route both for skin color and the texture of his hair. He feels like his parents had emigrated to Italy and there was a lot of pressure on him to blend in, hence his Italian pride and his Italian outrage overshadowing his heritage.

Melone: Again, I have seen some variety and they are all lovely, but when I did his portrait, I went with a paler Melone. I was probably motivated by his blond hair in the manga, but again, I do not have a strong preference, especially given that he was very controversial in fan circles and his fans deserve to celebrate him however they want.

Illuso: I really enjoy him as a person of color, and to my mind he has Spanish heritage and possibly Indian heritage. I have seen different interpretations and they all look great, so I am not very particular, but I always lean towards darker skin.

Sorbet and Gelato: Lumping them together here because I roll with these two being Slavic. Gelato I drew as more rosy because it just feels right with his blond hair, but for Sorbet I prefer darker skin. I have sadly seen little variety for them, but I hope there are different iterations out there because they deserve to be explored more beyond how they had died...