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
ICD-10 ChapterIV: Endocrine, Nutritional and Metabolic Diseases 1 Communicable or Non-communicable Transmission Route Causative Agent
Causative Agent (category) Sources
1. Wikipedia: ICD-10
WikipediaList of chapters, Chapter IVQuote, List of chapters, Chapter IV
Endocrine, nutritional and metabolic diseases
View the Source 2. World Health Organization: Noncommunicable diseases (fact sheet)
World Health OrganizationLead 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 1Quote, 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 Reader Challenges (0)
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