skip to main content
LOTERRE

LOTERRE

Search from vocabulary

Content language

| español français
Search help

Concept information

disease > biological abnormality > hyperornithinemia
disease > enzymopathy > aminoacid disorder > hyperornithinemia
disease > metabolic disorder > hyperornithinemia

Preferred term

hyperornithinemia  

Definition(s)

  • 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. (Wikipedia)

In other languages

URI

http://data.loterre.fr/ark:/67375/VH8-MXJQPW9J-9

Download this concept:

RDF/XML TURTLE JSON-LD Last modified 5/14/20