Related Experiment Video

Updated: Jan 30, 2026

Observational Study Protocol for Repeated Clinical Examination and Critical Care Ultrasonography Within the Simple Intensive Care Studies
10:38

Observational Study Protocol for Repeated Clinical Examination and Critical Care Ultrasonography Within the Simple Intensive Care Studies

Published on: January 16, 2019

20.9K

A retrospective study of small molecule disorder types of metabolism in paediatric patients in intensive care

Ahmed El-Nawawy1, Mohamed Dawood1, Omneya Omar1

  • 1Department of Paediatrics, Faculty of Medicine, Alexandria University, Alexandria, Egypt.

Eastern Mediterranean Health Journal = La Revue De Sante De La Mediterranee Orientale = Al-Majallah Al-Sihhiyah Li-Sharq Al-Mutawassit
|February 1, 2019
PubMed

Insights

Diagnosing inborn errors of metabolism (IEM) is challenging. This study analyzed pediatric intensive care unit (PICU) data, finding consanguinity in 50% of confirmed small molecule disorder cases.

Area of Science:

  • Biochemistry
  • Pediatrics
  • Genetics

Background:

  • Inborn errors of metabolism (IEM) collectively cause significant morbidity and mortality.
  • Diagnosis of IEM is often challenging due to their rarity and diverse presentations.

Purpose of the Study:

  • To analyze epidemiological and clinical data of patients with suspected small molecule disorders admitted to a pediatric intensive care unit (PICU).
  • To determine the diagnostic yield and clinical outcomes for these patients.

Main Methods:

  • Retrospective analysis of medical records for patients admitted to Alexandria University Children's Hospital PICU between January 2010 and December 2014.
  • Inclusion criteria: suspected or confirmed diagnosis of small molecule disorders.

Main Results:

  • 34 patients had suspected or confirmed small molecule disorders.
  • Diagnosis was confirmed in 22.7% at admission and 25% during PICU stay.
  • Consanguineous marriage was present in 50% of confirmed cases.

Conclusions:

  • A high index of suspicion is crucial for diagnosing small molecule disorders.
  • Screening high-risk individuals in low- and middle-income countries is important.
Abstract

Keywords:
consanguinityinborn errors of metabolismorganic acadaemiapaediatric intensive caresmall molecule disorders

More Related Videos

Standardization of Basket Use in Sialendoscopy: A Ten-Year Retrospective Study09:36

Standardization of Basket Use in Sialendoscopy: A Ten-Year Retrospective Study

Published on: June 6, 2025

573
A Retrospective Study on Endoscopic Surgery for the Treatment of Paravertebral Abscess in Spinal Tuberculosis Patients03:47

A Retrospective Study on Endoscopic Surgery for the Treatment of Paravertebral Abscess in Spinal Tuberculosis Patients

Published on: October 25, 2024

663

Related Concept Videos

Patient-centered Care01:13

Patient-centered Care

Patient-centered care involves delivering care beyond inpatient hospitalization. Reflective practice can enhance a patient-centered approach. Reflective practice is a process of reasoning that considers all aspects of the present situation, including practicalities, learning from personal practice, and consideration of patient needs. Patients appreciate care decisions made while considering their input. Involving the patient in their care provides the patient with a sense of contribution rather...
3.0K
Types of Signaling Molecules01:32

Types of Signaling Molecules

In multicellular organisms, many molecules transmit signals between cells to pass information. These signals vary in complexity and include small peptides, nucleotides, steroids, fatty acid derivatives, and dissolved gases such as nitric oxide. Some signaling molecules diffuse through the plasma membrane to act locally between neighboring cells or travel long distances. Others remain attached to the cell surface, transmitting information to other cells only when they make contact. In some...
13.1K
Pleural Disorders: Types and Brief Description01:30

Pleural Disorders: Types and Brief Description

The pleura is a vital part of the respiratory system. It's a double-layered membrane surrounding the lungs and lining the chest cavity. The two layers of the pleura are:
677
What is Metabolism?00:52

What is Metabolism?

Overview
131.7K
Pharmacokinetics in Pediatric Patients: Drug Metabolism01:24

Pharmacokinetics in Pediatric Patients: Drug Metabolism

In pediatric care, understanding the nuances of hepatic drug metabolism is crucial, as it significantly differs from that of adults. This divergence is primarily due to the developmental stage of drug-metabolizing enzymes, which affects how medications are processed in the body. In neonates, for instance, the activity of Phase I enzymes—critical for the initial breakdown of drugs—is markedly reduced, functioning at just 20–40% of the levels seen in adults. This reduction poses...
223
Cell Adhesion Molecules - Types and Functions01:20

Cell Adhesion Molecules - Types and Functions

Cell adhesion molecules (CAMs) are pivotal to multicellularity and the coordinated functioning of tissues and organ systems. They enable physical interactions between cells and provide mechanical strength to tissues. They also function as receptors for signal transmission across the plasma membrane. The CAMs are broadly classified into four families - integrins, cadherins, selectins, and immunoglobulin-like CAMs (IgCAMs).
CAM Families
The Integrin family of proteins is primarily  involved...
9.3K