Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

HHH syndrome is an autosomal recessive disorder of protein metabolism. The deficient mitochondrial ornithin transporter causes an accumulation of ornithin and ammonia. Hyperammonemia results in disturbances of the cerebral development and clotting abnormalities.

Systematic

Urea cycle disorders
Argininosuccinic aciduria
Citrullinemia
Citrullinemia type 2
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
SLC25A15
Ornithine aminotransferase deficiency
Ornithine carbamoyltransferase deficiency

References:

1.

Camacho JA et al. (1999) Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter.

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2.

Miyamoto T et al. (2001) Diagnosis of Japanese patients with HHH syndrome by molecular genetic analysis: a common mutation, R179X.

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3.

Salvi S et al. (2001) Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.

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4.

Debray FG et al. (2008) Phenotypic variability among patients with hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15.

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5.

Tessa A et al. (2009) Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study.

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6.

Nakajima M et al. (1988) Clinical, biochemical and ultrastructural study on the pathogenesis of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.

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7.

Camacho JA et al. (2003) Cloning and characterization of human ORNT2: a second mitochondrial ornithine transporter that can rescue a defective ORNT1 in patients with the hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, a urea cycle disorder.

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8.

Lemay JF et al. (1992) Hyperammonemia-hyperornithinemia-homocitrullinuria syndrome: neurologic, ophthalmologic, and neuropsychologic examination of six patients.

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9.

Shih VE et al. (1992) Neonatal form of the hyperornithinaemia, hyperammonaemia, and homocitrullinuria (HHH) syndrome and prenatal diagnosis.

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10.

Smith L et al. (1992) Hyperornithinemia, hyperammonemia, homocitrullinuria (HHH) syndrome: presentation as acute liver disease with coagulopathy.

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11.

Gatfield PD et al. (1975) Hyperornithinemia, hyperammonemia, and homocitrullinuria associated with decreased carbamyl phosphate synthetase I activity.

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12.

Camacho JA et al. (2006) Clinical and functional characterization of a human ORNT1 mutation (T32R) in the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome.

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13.

Camacho JA et al. (2009) The human and mouse SLC25A29 mitochondrial transporters rescue the deficient ornithine metabolism in fibroblasts of patients with the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome.

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14.

Tuchman M et al. (1990) Episodic hyperammonemia in adult siblings with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.

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15.

Chadefaux B et al. (1989) Potential for the prenatal diagnosis of hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.

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16.

Gjessing LR et al. (1986) A new patient with hyperornithinaemia, hyperammonaemia and homocitrullinuria treated early with low protein diet.

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17.

Rodes M et al. (1987) A new family affected by the syndrome of hyperornithinaemia, hyperammonaemia and homocitrullinuria.

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18.

Dionisi Vici C et al. (1987) Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: low creatine excretion and effect of citrulline, arginine, or ornithine supplement.

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19.

Haust MD et al. (1987) Possible pathogenetic mechanism in hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.

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20.

Koike R et al. (1987) Hyperornithinemia, hyperammonemia, and homocitrullinuria: case report and biochemical study.

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21.

Hommes FA et al. (1986) Studies on a case of HHH-syndrome (hyperammonemia, hyperornithinemia, homocitrullinuria).

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22.

Simell O et al. (1985) Ornithine loading did not prevent induced hyperammonemia in a patient with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.

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23.

Fell V et al. (1974) Ornithinemia, hyperammonemia, and homocitrullinuria. A disease associated with mental retardation and possibly caused by defective mitochondrial transport.

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24.

Shih VE et al. (1969) Hyperornithinemia, hyperammonemia, and homocitrullinuria. A new disorder of amino acid metabolism associated with myoclonic seizures and mental retardation.

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25.

Gray RG et al. (1982) Reduced ornithine catabolism in cultured fibroblasts and phytohaemagglutinin-stimulated lymphocytes from a patient with hyperornithinaemia, hyperammonaemia and homocitrullinuria.

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26.

Oyanagi K et al. (1983) The mechanism of hyperammonaemia and hyperornithinaemia in the syndrome of hyperornithinaemia, hyperammonaemia with homocitrullinuria.

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27.

Gray RG et al. (1983) Studies on the pathway from ornithine to proline in cultured skin fibroblasts with reference to the defect in hyperornithinaemia with hyperammonaemia and homocitrullinuria.

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28.

OMIM.ORG article

Omim 238970 [^]
29.

Orphanet article

Orphanet ID 415 [^]
30.

Wikipedia article

Wikipedia EN (Ornithine_translocase_deficiency) [^]
Update: April 29, 2019