Alkaptonuria, more than just a mere disease.
Abdul Qayyum Rana1, Usman Saeed1, Ismael Abdullah1
1Department of Neurology, Parkinson's Clinic of Eastern Toronto and Movement Disorders Center, Toronto, Ontario, Canada.
Journal of Neurosciences in Rural Practice
|April 18, 2015
Summary
Alkaptonuria (AKU) presents atypically early with rapid progression and significant psychological distress. This case emphasizes AKU as a multidimensional disease requiring comprehensive care.
Area of Science:
- Medical Genetics
- Rare Diseases
- Metabolic Disorders
Background:
- Alkaptonuria (AKU) is a rare autosomal recessive metabolic disorder.
- Characterized by homogentisic acid accumulation, leading to ochronosis and systemic complications.
Observation:
- A 46-year-old Caucasian male presented with early-onset AKU symptoms by age 25.
- Ochronotic pigmentations appeared as early as age 12, with absent disease-free period.
- Patient exhibited dysthymia, social isolation, and worthlessness.
Findings:
- Atypical early onset and aggressive disease progression in AKU.
- Significant psychological comorbidities, including dysthymia, are associated with AKU.
- Advanced spinal myelopathy and arthropathy necessitated bilateral shoulder replacement.
Implications:
- AKU should be viewed as a multidimensional disease impacting physiological, neurological, and psychological health.
- Early diagnosis and integrated management focusing on psychological well-being are crucial for improving patient quality of life.
- Further research into AKU's complex manifestations and prognosis is warranted.
More Related Videos
Related Concept Videos
01:23Titration of Polyprotic Acids with a Strong Base
3.3K
Titration of a polyprotic acid, which contains multiple ionizable protons, involves distinct dissociation steps, each with its own dissociation constant (Ka). Each successive Ka is weaker than the previous one. In the titration of a polyprotic acid like sulfurous acid with a strong base such as sodium hydroxide, the base first neutralizes the initial ionizable proton, forming an intermediate species (e.g., hydrogen sulfite ions). This step's titration curve resembles that of a weak...
3.3K
02:08Titration of a Polyprotic Acid
108.6K
A polyprotic acid contains more than one ionizable hydrogen and undergoes a stepwise ionization process. If the acid dissociation constants of the ionizable protons differ sufficiently from each other, then the titration curve for such polyprotic acid generates a distinct equivalence point for each of its ionizable hydrogens. Therefore, titration of a diprotic acid results in the formation of two equivalence points, whereas the titration of a triprotic acid results in the formation of three...
108.6K
01:08Titration of a Weak Acid with a Weak Base
5.5K
Weak acids and bases do not undergo dissociation completely, and titrations between these two are rarely studied. When such studies are performed, say, for the titration of a weak acid with a weak base, the titration curve plots the change in pH as a function of the volume of base added. Take the titration of acetic acid with ammonia, for instance. During the titration, these two species form ammonium acetate and water, but the pH change is slow and gradual.
As a result, there is no simple...
As a result, there is no simple...
5.5K
03:38Polyprotic Acids
35.1K
Acids are classified by the number of protons per molecule that they can give up in a reaction. Acids such as HCl, HNO3, and HCN that contain one ionizable hydrogen atom in each molecule are called monoprotic acids. Their reactions with water are:
35.1K
01:18Titration of Polyprotic Base with a Strong Acid
6.2K
The titration of a polyprotic base such as sodium carbonate with a strong acid such as hydrochloric acid results in two equivalence points on the titration curve. At the first equivalence point, the carbonate ions in the base are completely converted to bicarbonate ions. The second equivalence point corresponds to the complete conversion of bicarbonate ions to carbonic acid, which dissociates into carbon dioxide and water. The region before the first equivalence point corresponds to the...
6.2K
01:19Composition of Polyprotic Acid Solutions as a Function of pH
1.1K
Polyprotic acids of the type H2M constitute two ionizable protons. As a result, on titration with a base, they exhibit two equivalence points in the titration curve. During titration, the species H2M, HM−, and M2− will be present in the solution at different points. The fractions of H2M, HM−, and M2− present at the various instances of the titration are denoted by α0, α1, and α2, respectively.
A graph with the alpha values is plotted against the volume of...
A graph with the alpha values is plotted against the volume of...
1.1K