Related Experiment Video

Updated: Aug 15, 2026

A Modified Sonographic Algorithm for Image Acquisition in Life-Threatening Emergencies in the Critically Ill Newborn
11:27

A Modified Sonographic Algorithm for Image Acquisition in Life-Threatening Emergencies in the Critically Ill Newborn

Published on: April 7, 2023

Urea cycle disorders: clinical presentation outside the newborn period

Wendy Smith1, Priya S Kishnani, Brendan Lee

  • 1Maine Pediatric Specialty Group, Portland, ME 04102, USA. smithw@mmc.org

Critical Care Clinics
|October 18, 2005
PubMed

Insights

Most urea cycle disorders (UCDs) appear in childhood, not infancy. Consider UCDs in children with recurrent symptoms, especially neurological issues during illness, requiring specific metabolic testing for diagnosis.

Area of Science:

  • Biochemistry
  • Pediatrics
  • Genetics

Background:

  • Urea cycle disorders (UCDs) are often diagnosed in infancy, but a significant number of patients present later in childhood.
  • Recognizing UCDs in pediatric patients is crucial for timely intervention and management.

Observation:

  • UCD symptoms can be nonspecific, including recurrent neurological abnormalities.
  • Acute illnesses can precipitate severe, fulminant presentations in affected children.
  • Elevated plasma ammonia levels are a key indicator for potential UCDs.

Findings:

  • Diagnosis requires specialized metabolic testing and confirmation via enzymatic or molecular analysis.
  • Early identification of UCDs is essential for managing metabolic imbalances.
  • Dietary protein restriction and medication adherence present challenges in pediatric UCD management.

Implications:

  • Increased awareness of UCDs in pediatric populations can improve diagnostic rates.
  • Understanding late-onset presentations aids in earlier detection and treatment.
  • Developing effective, long-term management strategies for childhood UCDs is critical.

More Related Videos

Handwriting Analysis Indicates Spontaneous Dyskinesias in Neuroleptic Naïve Adolescents at High Risk for Psychosis05:52

Handwriting Analysis Indicates Spontaneous Dyskinesias in Neuroleptic Naïve Adolescents at High Risk for Psychosis

Published on: November 21, 2013

Preterm EEG: A Multimodal Neurophysiological Protocol19:32

Preterm EEG: A Multimodal Neurophysiological Protocol

Published on: February 18, 2012

Related Concept Videos

Urea Cycle01:23

Urea Cycle

The urea cycle describes how liver cells convert ammonia to urea. Ammonia is a toxic waste product of protein catabolism. Land animals must convert ammonia into the less toxic urea which can be safely eliminated by the kidneys through urine. Marine animals excrete ammonia directly, and the surrounding water dilutes the ammonia to safe levels.
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...
Chronic Kidney Disease II: Clinical Manifestations01:24

Chronic Kidney Disease II: Clinical Manifestations

Chronic Kidney Disease (CKD) progressively impairs multiple body systems due to the accumulation of uremic toxins, which disrupt cellular functions across various organs.Neurologic symptomsNeurologic symptoms often arise early in CKD, as uremic toxin buildup drives changes in cognitive and motor functions. Patients frequently experience fatigue, headache, confusion, difficulty concentrating, and, in severe cases, seizures. Peripheral neuropathy commonly manifests as burning sensations in the...
Disorders of Acid-Base Balance01:29

Disorders of Acid-Base Balance

The human body maintains a precise pH range of arterial blood between 7.35 and 7.45. Deviations result in either acidosis (pH < 7.35) or alkalosis (pH > 7.45). These conditions are further classified as respiratory or metabolic disorders based on their underlying cause.
Respiratory Acidosis and Alkalosis
Respiratory acidosis occurs due to an increase in the partial pressure of carbon dioxide PCO2 in the blood. It often arises from shallow breathing or impaired gas exchange caused by...
Acute Kidney Injury III: Clinical Manifestations01:29

Acute Kidney Injury III: Clinical Manifestations

Acute Kidney Injury (AKI) progresses through distinct clinical phases: the oliguric, diuretic, and recovery phases, each marked by unique manifestations and challenges.Oliguric Phase:The oliguric phase is the initial stage of AKI, typically lasting 10 to 14 days. This phase is marked by a significant reduction in urine output, usually less than 400 mL per day, indicating decreased kidney function. Fluid retention is a prominent feature, leading to symptoms such as edema, hypertension, and...
Disorders of the Urinary System01:20

Disorders of the Urinary System

The urinary system is responsible for eliminating waste and excess fluids from the body. However, disorders of the urinary system can arise due to various reasons like infections, stress, age, congenital abnormalities, and lifestyle.
Urinary tract infections (UTIs) are one of the most common urinary system disorders. They are caused by bacteria that enter the urethra and can spread to the bladder resulting in cystitis. Pyelonephritis is the result of a UTI that has ascended to the level of the...