Medicine Atlas

How Healing Is Practiced
Sign In
Text size
100%
Theme
Condition

Ornithine translocase deficiency

Endocrine, Nutritional and Metabolic Diseases

Ornithine translocase deficiency, also known as hyperornithinemia-hyperammonemia-homocitrullinuria syndrome or HHH syndrome, is a rare autosomal recessive urea cycle disorder caused by mutations in the SLC25A15 gene that disrupt the ornithine translocase enzyme, allowing ammonia to build up in the blood.

Facts
Classification
Body System
Endocrine System 1
ICD-10 Chapter
IV: Endocrine, Nutritional and Metabolic Diseases 1
Communicable or Non-communicable
Non-Communicable 2
Transmission Route
Non-Transmissible 2
Causative Agent
Causative Agent (category)
Genetic / Hereditary 3
Sources
1. Wikipedia: ICD-10
WikipediaList of chapters, Chapter IV
Quote, List of chapters, Chapter IV
Endocrine, nutritional and metabolic diseases
View the Source
2. World Health Organization: Noncommunicable diseases (fact sheet)
World Health Organization
  • Lead section, transmission-route statement (inferred from disease-category)
    The main types of NCDs are cardiovascular diseases (such as heart attacks and stroke), cancers, chronic respiratory diseases (such as chronic obstructive pulmonary disease and asthma) and diabetes.
  • Main Types section
    The main types of NCDs are cardiovascular diseases (such as heart attacks and stroke), cancers, chronic respiratory diseases (such as chronic obstructive pulmonary disease and asthma) and diabetes.
View the Source
3. Ornithine translocase deficiency (Wikipedia)
lead sentence 1
Quote, lead sentence 1
Ornithine translocase deficiency, also called hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome, is a rare autosomal recessive urea cycle disorder affecting the enzyme ornithine translocase, which causes ammonia to accumulate in the blood, a condition called hyperammonemia.
View the Source
Wikidata: Ornithine translocase deficiency
Wikidata Q7103627, class allow-list match (w-wdresolver-0926)View the Source
Comments (0)
No comments yet. Be the first to share a thought.
Reader Challenges (0)
No disputes yet. Spotted an error or a better source? Open the first one.