Related Experiment Video

Updated: Feb 12, 2026

Testing Sensory and Multisensory Function in Children with Autism Spectrum Disorder
09:13

Testing Sensory and Multisensory Function in Children with Autism Spectrum Disorder

Published on: April 22, 2015

17.2K

Renal oxalate stones in children with Zellweger spectrum disorders

Hamdan Hammad Alhazmi1

  • 1Department of Surgery, Division of Urology, College of Medicine, King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia.

Saudi Journal of Anaesthesia
|April 10, 2018
PubMed

Insights

Zellweger spectrum disorders (ZSDs) can cause kidney problems like oxalate stones. Early screening for hyperoxaluria in ZSD patients is crucial to prevent renal damage.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Peroxisomal biogenesis disorders (PBDs) arise from PEX gene defects, with Zellweger spectrum disorders (ZSDs) being the most common subgroup.
  • ZSDs manifest in neonatal, adolescent, or adult phenotypes, exhibiting variable clinical severity and metabolic abnormalities due to impaired peroxisomal function.

Observation:

  • A case study identified oxalate renal stones in a patient diagnosed with ZSD.
  • The patient presented with hyperoxaluria and hyperglycolic aciduria, indicating a significant urinary oxalate load.

Findings:

  • Radiological evaluation confirmed renal involvement, including urolithiasis (kidney stones) and nephrocalcinosis (kidney calcification).
  • Assessment of urinary oxalate and glycolate excretion correlated with the observed clinical signs of hyperoxaluria.

Implications:

  • The findings highlight the importance of screening ZSD patients for urinary stones and hyperoxaluria using urinalysis and ultrasonography.
  • Early detection and intervention are recommended to mitigate renal damage and improve patient outcomes in ZSD.

Keywords:
Peroxisome biogenesis disorderZellweger spectrum disorderZellweger syndrome

More Related Videos

Author Spotlight: Exploring Autism Spectrum Disorder Symptoms in Fruit Flies — Genetic Models and Behavioral Tests08:30

Author Spotlight: Exploring Autism Spectrum Disorder Symptoms in Fruit Flies — Genetic Models and Behavioral Tests

Published on: September 6, 2024

2.7K
Eye Tracking Young Children with Autism09:03

Eye Tracking Young Children with Autism

Published on: March 27, 2012

46.6K

Related Concept Videos

Autism Spectrum Disorder01:19

Autism Spectrum Disorder

Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
1.2K
Types of Building Stone01:30

Types of Building Stone

Building stones, essential materials for construction, are extracted from natural rock deposits and processed into specific forms and dimensions suitable for various building applications. These stones are broadly classified into three types based on their geological formation: igneous, sedimentary, and metamorphic.
Igneous rocks are formed from the solidification of magma or lava. An example is granite, known for its durability and resistance to weathering, making it ideal for parts of...
458
The Electromagnetic Spectrum02:37

The Electromagnetic Spectrum

The electromagnetic spectrum consists of all the types of electromagnetic radiation arranged according to their frequency and wavelength. Each of the various colors of visible light has specific frequencies and wavelengths associated with them, and you can see that visible light makes up only a small portion of the electromagnetic spectrum. Because the technologies developed to work in various parts of the electromagnetic spectrum are different, for reasons of convenience and historical...
65.6K
The Electromagnetic Spectrum01:24

The Electromagnetic Spectrum

Electromagnetic waves are categorized according to their wavelengths and frequencies, giving the electromagnetic spectrum. These waves are classified as radio, infrared, ultraviolet, etc. Radio waves refer to electromagnetic radiation with wavelengths ranging from millimeters to kilometers. Radio waves are commonly used for audio communications (i.e., radios) and typically result from an alternating current in the wires of a broadcast antenna. They cover a broad wavelength range and are used...
33.8K
Quarrying of Stone01:15

Quarrying of Stone

Quarrying is the process of extracting stone from a quarry, where specialized techniques are employed to remove large blocks of stone safely and efficiently. This process can involve controlled explosions or more precision-oriented methods such as cutting and drilling.
One common method involves using a diamond belt saw to cut large blocks from the quarry face. These blocks can be about 50 feet long and 12 feet high. After the initial vertical cut, drilling is performed at the base of the...
601
Stone Masonry01:29

Stone Masonry

Stone masonry is a construction technique that uses individual stones to build structures and can be categorized into two main types: rubble and ashlar. Rubble masonry uses uneven, naturally shaped stones such as river rocks or fragments from quarries. This method often requires the mason to select and possibly shape each stone to fit the designated space, ensuring a proper build, even with irregular stone sizes and shapes. Ashlar masonry, on the other hand, employs uniformly cut stones that...
510