ArticleJIMD reports2019
Hyperornithinemia, Hyperammonemia, and Homocitrullinuria Syndrome Causing Severe Neonatal Hyperammonemia.
Article in JIMD reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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9 citing papers in PubMed, 11 citations in OpenAlex.
- The SLC-ome of membrane transport: from molecular discovery to physiology and clinical applications.Physiological reviews · 2026Review
- Deleterious in vitro effects of ammonia and accumulated urea cycle amino acids on leukocyte DNA: assessment of the antioxidant effects of N-acetylcysteine and L-carnitine.Naunyn-Schmiedeberg's archives of pharmacology · 2026Article
- Biochemical testing and pathology reveal rare cause of pediatric acute liver failure: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.JPGN reports · 2026Article
- Article
- Urea cycle defects in adulthood: clinical presentation, diagnosis and treatment in genetically encoded hepatic metabolic disorders with a potential for encephalopathy.Metabolic brain disease · 2025Review
- Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome in Vietnamese Patients.Medicina (Kaunas, Lithuania) · 2024Article
- Late onset hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome, presenting as recurrent metabolic encephalopathy, A case report.Annals of medicine and surgery (2012) · 2022Article
- Clinical heterogeneity of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome in thirteen palestinian patients and report of a novel variant in theFrontiers in genetics · 2022Article
- The Biological Roles of Urea: A Review of Preclinical Studies.Indian journal of nephrologyReview
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Authors and funding
4 authors at 2 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome (OMIM 238970) is an autosomal recessive disorder that is caused by a deficiency of mitochondrial ornithine transporter 1, resulting in dysfunction of the urea cycle. HHH is the rarest of the urea cycle disorders, reported in fewer than 100 patients. It is characterized by extreme phenotypic variability, including diverse ages of onset and severity of phenotype. We report the first confirmed instance of HHH syndrome in a premature infant (31 2/7 weeks) with severe hyperammonemia (1,300 μmol/L).This case highlights the importance of considering HHH in the differential diagnosis for neonatal hyperammonemia. Because HHH is not detected by newborn screening, and the characteristic biochemical triad may be subtle or even absent, it has the potential to be underdiagnosed; however, making the diagnosis has critical therapeutic implications as treatment is distinct from other urea cycle defects. For instance, lysine supplementation is a beneficial treatment unique to HHH. Therefore, we present here a review of previously reported cases in order to demonstrate the full spectrum of the disease and highlight potentially diagnostic features.
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