• Skip to header navigation
  • Skip to members navigation
  • Skip to footer navigation
  • Skip to content
  • Members
  • Login
  • MDDA on social media: Twitter Facebook YouTube RSS Feed
Metabolic Dietary Disorders Association (MDDA) Metabolic Dietary Disorders Association (MDDA) - Ensuring all IEM's have informed choices and a better quality of life.
Metabolic Dietary Disorders Association (MDDA)

Ensuring all IEM's have informed choices and a better quality of life.

  • Home
  • Food
    • LowPro Inspo
    • Food Statistics
    • Recipes
    • Submit Recipe
    • Special Medical Foods
  • Diagnosis
    • 3-Methylcrotonyl CoA Carboxylase Deficiency (3MCC)
    • Arginase Deficiency (ARG)
    • Argininosuccinic Acidemia (ASA)
    • Citrullinaemia
    • Glutaric Acidaemia Type 1 (GA1)
    • Homocystinuria (HCU)
    • Isovaleric Aciduria (IVA)
    • Maple Syrup Urine Disease (MSUD)
    • Methylmalonic Aciduria (MMA)
    • Ornithine Transcarbamylase Deficiency (OTC)
    • Phenylketonuria (PKU)
    • Propionic Acidaemia (PA)
    • Tyrosinaemia Type 1 & 2 (TYRO)
  • Resources
    • Patient Pathways Telehealth Nurse
    • COVID-19
    • Trials and Research
    • Treatment Advancements
    • Metabolic Clinics
    • IEM Food Grant
    • School Starters
    • Government Carer Allowances
    • Handbooks / Guidelines
    • Care and Education
    • Literature and Presentations
    • Transitional Handbook
    • Videos
    • External Links
  • How to Help
    • Donate
    • Corporate Partnership
    • Become a Member
    • Fundraise
    • Join #teamMDDA
    • Volunteer
    • MDDA Program and Research Initiatives
    • Pathways
    • My LowPro Pal App
    • Zest
    • LowPro Eats
  • News & Events
    • News
    • Events
    • Newsletter Archives – members only
  • About MDDA
    • About MDDA
    • Our People
    • Our Partners
    • Strategic Priorities
    • Annual Reports
    • Website Terms of Use, Privacy & Social Media Policies
  • Marketplace
  • Members
    • Join/Renew
    • Terms & Conditions
    • Login To Renew
  • Contact
  • Show Search
Hide Search

Urea Cycle Disorders

Ornithine Transcarbamylase Deficiency (OTC)

Definition
Ornithine transcarbamylase (OTC) deficiency is a rare X-linked genetic disorder characterised by complete or partial lack of the enzyme ornithine transcarbamylase (OTC). OTC is one of six enzymes that play a role in the break down and removal of nitrogen the body, a process known as the urea cycle. The lack of the OTC enzyme results in excessive accumulation of nitrogen, in the form of ammonia (hyperammonemia), in the blood. Excess ammonia, which is a neurotoxin, travels to the central nervous system through the blood, resulting in the symptoms and physical findings associated with OTC deficiency. Symptoms include vomiting, refusal to eat, progressive lethargy, and coma.

Diagnosis
The condition can be diagnosed during newborn period. Diagnosis can also be made when symptoms present at any age.

Prevalence
1:50,000 – 80,000 estimated worldwide.

Treatment
The treatment of OTC deficiency is aimed at preventing excessive ammonia from being formed or from removing excessive ammonia during a hyperammonemic episode. OTC can be treated using a low protein, high calorie diet, micronutrients and the administration of essential amino acids.

During illness treatment will be different and you will need to ring your metabolic doctor/dietitian or the 24hour emergency number you have been given.

Support Links & Materials

  Urea Cycle Disorders Handbook

Amino Acid Disorders

  Phenylketonuria (PKU)
  Tyrosinaemia Type 1 & 2 (TYRO)
  Maple Syrup Urine Disease (MSUD)
  Homocystinuria (HCU)

Urea Cycle Disorders (UCD)

  Ornithine Transcarbamylase Deficiency (OTC)
  Citrullinaemia
  Argininosuccinic Acidaemia (ASA)
  Arginase Deficiency (ARG)

Organic Acidaemias

  Glutaric Acidaemia Type 1 & 2 (GA1) & (GA2)
  Methylmalonic Aciduria (MMA)
  Propionic Acidaemia (PA)
 3-Methylcrotonyl CoA Carboxylase Deficiency (3MCC)
Isovaleric Aciduria (IVA)

  • Privacy Policy
  • Website Terms of Use

Copyright © 2017–2021 Metabolic Dietary Disorders Association · Website by Spinning Webs Media