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All Diseases > Ornithine Translocase Deficiency
Ornithine Translocase Deficiency
Alternative Names: HHH Syndrome
Disease Category: Urea Cycle Disorders
An inherited, metabolic, urea cycle disorder characterized by homocitrulline excretion in urine as well as hyperornithinemia and hyperammonemia (high blood ornithine and ammonia levels, respectively). These signs are due to deficiency or absence of an enzyme needed to convert nitrogen from protein metabolism (break down) into urea (a waste product). Symptoms include vomiting, feeding and growth problems, fatigue, seizures, respiratory distress, liver problems, spasticity (muscle stiffness), coma, ataxia (lack of coordination), developmental delay, and cognitive impairment.
Research groups studying this disease
Urea Cycle Disorders
Urea Cycle Disorders Consortium (UCDC)View Disease Definition
Long-term observation of the impact of UCDs on physical and neurological functioning, the relationship between health indicators and disease severity and the eﬃciency of UCD therapies.
Study of how UCDs aﬀect thinking, body chemistry and brain structure using magnetic resonance imaging (MRI) and behavioral testing.