Related Experiment Video
Updated: Jul 11, 2026

07:45
Estimation of Urinary Nanocrystals in Humans using Calcium Fluorophore Labeling and Nanoparticle Tracking Analysis
Published on: February 9, 2021
Summary
Alcaptonuria, an inborn error of metabolism, was observed in two children from a Negro family. This finding provides the first evidence of alcaptonuria in the American Negro population.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Alcaptonuria is a rare inherited metabolic disorder.
- Previous literature has not documented cases within the American Negro population.
Purpose of the Study:
- To report the occurrence of alcaptonuria in an American Negro family.
- To establish the presence of this metabolic disorder in this demographic.
Main Methods:
- Clinical observation of affected individuals.
- Family history investigation.
- Medical examination of family members.
Main Results:
- Alcaptonuria diagnosed in two children of a Negro family.
- Other family members examined were found to be unaffected.
- This represents the first documented instance of alcaptonuria in American Negroes.
Conclusions:
- Alcaptonuria occurs in the American Negro population.
- The study highlights the importance of considering genetic metabolic disorders across diverse ethnic groups.
Related Concept Videos
Pharmacogenetics of Phase II Enzymes: N-acetyltransferase, Thiopurine S-methyltransferase, UDP-glucuronosyltransferase
Phase II biotransformation reactions are essential for detoxifying and eliminating xenobiotics, including many pharmaceutical compounds. These reactions typically involve conjugation, the covalent attachment of polar endogenous groups such as glucuronic acid, sulfate, methyl, or acetyl moieties to functional groups introduced during Phase I metabolism. The resulting conjugates are more water-soluble, enabling efficient renal or biliary excretion.The major classes of Phase II enzymes include...
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...
Filtrate Osmolarity in the PCT
Initially, as the filtrate passes through the proximal convoluted tubule (PCT), its...
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...
Inborn Errors of Metabolism
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
Formation of Concentrated Urine
There is a gradient of solutes in the interstitial fluid from the renal cortex through the medulla, known as the medullary osmotic gradient. The juxtamedullary nephrons establish and maintain this gradient using countercurrent mechanisms with loops extending deep into the medulla. These nephrons also use countercurrent mechanisms to regulate urine volume and concentration. The interaction between the descending and ascending limbs of the nephron loop creates an osmotic gradient through...
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,...
