Related Experiment Video

Updated: Jul 20, 2026

Posterior Approach for Debridement of the Psoas Abscess
06:02

Posterior Approach for Debridement of the Psoas Abscess

Published on: March 2, 2020

Urolithiasis and psoas abscess in a 2-year-old boy with type 1 glycogen storage disease

Zafar Nazir1, Saqib Hamid Qazi

  • 1Section of Pediatric Surgery, Department of Surgery, The Aga Khan University Hospital, P.O. Box 3500, Stadium Road, Karachi, 74800, Pakistan. zafar.nazir@aku.edu

Pediatric Nephrology (Berlin, Germany)
|August 26, 2006
PubMed

Insights

A 2-year-old boy with glycogen storage disease type 1 (GSD-1) developed a psoas abscess due to a kidney stone. Early detection and metabolic management are key to preventing urolithiasis complications in GSD-1 patients.

Area of Science:

  • Pediatric Nephrology
  • Metabolic Disorders
  • Urology

Background:

  • Glycogen storage disease type 1 (GSD-1) is a rare inherited metabolic disorder.
  • Urolithiasis is a known complication in patients with GSD-1.
  • Pyogenic psoas abscess is a rare but serious condition.

Observation:

  • A 2-year-old boy with GSD-1 presented with a pyogenic psoas abscess.
  • The abscess was secondary to an impacted calcium oxalate ureteric stone.
  • The patient underwent surgical intervention including abscess drainage, percutaneous nephrostomy, and ureterolithotomy.

Findings:

  • Metabolic derangements including acidosis, hyperuricemia, hypocitraturia, and hypercalciuria are implicated in GSD-1 urolithiasis pathogenesis.
  • Successful management involved a multi-step surgical approach.
  • The case highlights the link between GSD-1 and complex urinary tract complications.

Implications:

  • Regular abdominal ultrasonography is recommended for early detection of urolithiasis in GSD-1 patients.
  • Optimal metabolic control is crucial for preventing stone formation and associated complications.
  • This case underscores the importance of a multidisciplinary approach in managing GSD-1 patients with urolithiasis.

Related Concept Videos

Inborn Errors of Metabolism01:20

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...
Overview of Protein Metabolism01:21

Overview of Protein Metabolism

Proteins are broken down into amino acids during digestion. Unlike fats and carbohydrates, which are stored for later use, proteins are not. Instead, amino acids are either used to produce ATP through oxidation or contribute to the creation of new proteins for the growth and repair of the body. Any surplus amino acids from the diet are converted into glucose or triglycerides rather than excreted.
Amino acids play various roles in the body once they are absorbed into cells. They are restructured...
Acute Pyelonephritis II: Diagnostic Studies and Management01:28

Acute Pyelonephritis II: Diagnostic Studies and Management

Introduction:For diagnosing acute pyelonephritis, a comprehensive patient history is collected to identify symptoms such as dysuria, frequent or urgent urination, flank pain, or costovertebral angle (CVA) tenderness that may suggest a kidney infection.Physical ExaminationDuring the physical examination, CVA tenderness is assessed. This involves gentle percussion over the costovertebral angle, where tenderness often indicates a kidney infection.Diagnostic TestsUrinalysis: Used to identify white...
Lysosomal Hydrolases01:22

Lysosomal Hydrolases

Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
Glucose Transporters01:27

Glucose Transporters

Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
Urinary Tract Calculi II: Pathophysiology and Clinical Manifestations01:26

Urinary Tract Calculi II: Pathophysiology and Clinical Manifestations

Renal calculi, commonly termed kidney stones, are crystalline solid masses that form in the kidneys but can occur at any point within the urinary system, encompassing the kidneys, ureters, bladder, and urethra.The pathophysiology of renal stones involves several key factors: supersaturation of the urine with stone-forming constituents, changes in urine pH, a decrease in urine volume, and the presence of substances that promote or inhibit stone formation.Supersaturation of Urine: This is the...