#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

[twinkl22004]

“Alkaptonuria” Victor McKusick, Mendelian Inheritance in Man, 1966. 碱性尿。(AKU).

Here I present: “Alkaptonuria” Victor McKusick, Mendelian Inheritance in Man’, 1966. 碱性尿。(AKU). INTRODUCTION. Alkaptonuria is an inherited genetic disease which is caused by a mutation in the HGD gene for the enzyme homogentisate 1,2-dioxygenase (EC# 1.13.11.5); if a person inherits an abnormal copy from both parents (it is a recessive condition), the body accumulates an intermediate substance…

[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

[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.

[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 

[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:

(more…)

[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.