Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Hyperornithinämie-Hyperammonämie-Homocitrullinurie-Syndrom

Das HHH-Syndrom ist eine autosomal rezessive Erkrankung des Proteinstoffwechsels. Durch den Ausfall des mitochondrialen Ornithintransporters kommt es zu einer Hyperammonämie. Die sekundären Folgen sind eine gestörte zerebrale Entwicklung und Störungen der Gerinnung.

Gliederung

Störungen des Harnstoffzyklus
Argininbernsteinsäure-Krankheit
Citrullinämie
Citrullinämie Typ 2
Hyperornithinämie-Hyperammonämie-Homocitrullinurie-Syndrom
SLC25A15
Ornithincarbamoyltransferase-Mangel
Ornithine-Aminotransferase-Mangel

Referenzen:

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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