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Related Concept Videos

Urine Studies I: Urinalysis01:29

Urine Studies I: Urinalysis

Urinalysis is a widely used diagnostic test that analyzes urine's physical, chemical, and microscopic characteristics. Healthcare providers use it to detect and monitor various health conditions, including renal disease, urinary tract infections (UTIs), diabetes, and metabolic or systemic disorders.Components of UrinalysisUrinalysis consists of three primary components: physical, chemical, and microscopic examination. Each provides unique insights into the urine sample and, by extension, the...
Urine: Physical and Chemical Properties01:18

Urine: Physical and Chemical Properties

Urine comprises approximately 95% water and 5% solutes. The primary ingredient, apart from water, is urea - a byproduct of the breakdown of amino acids. Other notable components include uric acid, a residue from nucleic acid metabolism, and creatinine, a metabolite from creatine phosphate breakdown in skeletal muscle tissue.
The concentration of these solutes varies, with urea being the most abundant nitrogenous waste product. Other solutes include sodium, chloride, potassium, phosphate,...
Acute Pyelonephritis I: Introduction01:27

Acute Pyelonephritis I: Introduction

Pyelonephritis is a bacterial infection that primarily affects the renal parenchyma and collecting system, including the renal pelvis, tubules, and interstitial tissue of one or both kidneys. It can be classified as either acute—a sudden, severe infection—or chronic, which refers to long-term or recurrent kidney infections.The primary cause of acute pyelonephritis (APN) is bacterial infection, with Escherichia coli accounting for approximately 70-80% of cases. Other bacteria, such as Proteus,...
Titration of a Weak Acid with a Weak Base01:08

Titration of a Weak Acid with a Weak Base

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...
Formation of Dilute Urine01:20

Formation of Dilute Urine

The formation of dilute urine is a critical renal adaptation that maintains fluid balance, particularly during periods of high fluid intake. This process primarily involves the juxtamedullary nephrons. By adjusting the permeability of water and ions in response to physiological conditions, the kidneys can either conserve or excrete water, resulting in concentrated or dilute urine.
Filtrate Osmolarity in the PCT
Initially, as the filtrate passes through the proximal convoluted tubule (PCT), its...
Titration of Polyprotic Acids with a Strong Base01:23

Titration of Polyprotic Acids with a Strong Base

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 monoprotic...

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Related Experiment Video

Updated: May 13, 2026

Direct Detection of the Acetate-forming Activity of the Enzyme Acetate Kinase
05:51

Direct Detection of the Acetate-forming Activity of the Enzyme Acetate Kinase

Published on: December 19, 2011

Alkaptonuria - more than meets the eye.

S G Ong1, B C Chen

  • 1Hospital Kuala Lumpur, Department of Medicine, Hospital Kuala Lumpur, Jalan Pahang, Kuala Lumpur, Wilayah Persekutuan 50586 Malaysia. ongsweeg@gmail.com.

The Medical Journal of Malaysia
|March 8, 2013
PubMed
Summary

Alkaptonuria, a rare genetic disorder, was diagnosed in an elderly man presenting with chronic back and knee pain. Elevated homogentisic acid levels in urine confirmed the diagnosis.

Area of Science:

  • Biochemistry
  • Genetics
  • Rheumatology

Background:

  • Alkaptonuria (AKU) is a rare autosomal recessive metabolic disorder.
  • Characterized by a deficiency in the enzyme homogentisate 1,2-dioxygenase (HGD).
  • Leads to the accumulation of homogentisic acid (HGA) in the body, causing ochronosis and tissue damage.

Purpose of the Study:

  • To report a case of alkaptonuria diagnosed in an elderly patient presenting with chronic musculoskeletal pain.
  • To highlight the clinical and radiographic manifestations of AKU in an adult.
  • To emphasize the importance of biochemical confirmation for accurate diagnosis.

Main Methods:

  • Clinical evaluation of an elderly male patient with chronic lower back and bilateral knee pain.
  • Radiographic assessment to identify characteristic degenerative changes.

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  • Biochemical analysis of urine for elevated homogentisic acid levels using gas chromatography-mass spectrometry (GC-MS).

    • Main Results:

    • The patient exhibited clinical symptoms and radiographic findings consistent with alkaptonuria.
    • Gas chromatography-mass spectrometry confirmed significantly elevated levels of homogentisic acid in the patient's urine.
    • The diagnosis of alkaptonuria was established based on these findings.

    Conclusions:

    • Alkaptonuria can present insidiously in elderly individuals with chronic pain symptoms.
    • Early and accurate diagnosis of AKU is crucial for potential management strategies and patient counseling.
    • Diagnostic confirmation relies on detecting elevated HGA levels, often requiring specialized biochemical testing.