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Ornithincarbamoyltransferase-Mangel

Der OTC-Mangel ist eine x-chromosomal rezessive metabolische Erkrankung, die durch erhöhte Ammoniak-Spiegel im Blut gekennzeichnet ist. Die Erkrankung kann durch eine proteinarme Diät und Arginin-Substitution behandelt werden.

Epidemiologie

OTC-Mangel ist die häufigste Erkrankung des Harnstoffzyklus. Die Prävalenz beträgt 1/40.000.[Error: Macro 'ref' doesn't exist]

Gliederung

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

Referenzen:

1.

Krieger I et al. (1979) Atypical clinical course of ornithine transcarbamylase deficiency due to a new mutant (comparison with Reye's disease).

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2.

Tripp JH et al. (1981) Sodium valproate and ornithine carbamyl transferase deficiency.

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3.

Levin B et al. (1969) Hyperammonaemia: a deficiency of liver ornithine transcarbamylase. Occurrence in mother and child.

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4.

Herrin JT et al. (1969) Peritoneal dialysis in the reduction of blood ammonia levels in a case of hyperammonaemia.

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5.

Bruton CJ et al. (1970) Hereditary hyperammonaemia.

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6.

Matsuda I et al. (1971) Hyperammonemia due to a mutant enzyme of ornithine transcarbamylase.

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7.

Sunshine P et al. (1972) Hyperammonemia due to a defect in hepatic ornithine transcarbamylase.

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8.

Cathelineau L et al. (1974) Heterogenous mutations of the structural gene of human ornithine carbamyltransferase as observed in five personal cases.

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9.

Qureshi IA et al. (1979) Ornithine transcarbamylase deficiency in mutant mice I. Studies on the characterization of enzyme defect and suitability as animal model of human disease.

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10.

Short EM et al. (1973) Evidence for x-linked dominant inheritance of ornithine transcarbamylase deficiency.

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11.

Campbell AG et al. (1973) Ornithine transcarbamylase deficiency: a cause of lethal neonatal hyperammonemia in males.

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12.

Rodeck CH et al. (1982) Fetal liver biopsy for prenatal diagnosis of ornithine carbamyl transferase deficiency.

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13.

Thaler MM et al. (1974) Reye's syndrome due to a novel protein-tolerant variant of ornithine-transcarbamylase deficiency.

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14.

Scott CR et al. (1972) X-linked transmission of ornithine-transcarbamylase deficiency.

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15.

Campbell AG et al. (1971) Lethal neonatal hyperammonaemia due to complete ornithine-transcarbamylase deficiency.

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16.

Kornfeld M et al. (1985) Neuropathology of ornithine carbamyl transferase deficiency.

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17.

Goldblum OM et al. (1986) Neonatal citrullinemia associated with cutaneous manifestations and arginine deficiency.

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18.

Rowe PC et al. (1986) Natural history of symptomatic partial ornithine transcarbamylase deficiency.

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19.

Gilchrist JM et al. (1987) Ornithine transcarbamylase deficiency: adult onset of severe symptoms.

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20.

Fox J et al. (1986) Prenatal diagnosis of ornithine transcarbamylase deficiency with use of DNA polymorphisms.

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21.

Hamano Y et al. (1988) Use of immunocytochemical analysis of a duodenal biopsy specimen to identify a carrier of ornithine transcarbamylase deficiency.

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22.

Drogari E et al. (1988) Late onset ornithine carbamoyl transferase deficiency in males.

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23.

Amir J et al. (1982) Intracranial haemorrhage in siblings and ornithine transcarbamylase deficiency.

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24.

Ricciuti FC et al. (1976) X-chromosome inactivation in human liver: confirmation of X-linkage of ornithine transcarbamylase.

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25.

Yudkoff M et al. (1996) In vivo nitrogen metabolism in ornithine transcarbamylase deficiency.

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26.

Maestri NE et al. (1996) Long-term treatment of girls with ornithine transcarbamylase deficiency.

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27.

Morsy MA et al. (1996) Patient selection may affect gene therapy success. Dominant negative effects observed for ornithine transcarbamylase in mouse and human hepatocytes.

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28.

Clayton-Smith J et al. (1995) Fetal valproate syndrome.

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29.

Shapiro JM et al. (1980) Mitochondrial abnormalities of liver in primary ornithine transcarbamylase deficiency.

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30.

Batshaw ML et al. (1980) Cerebral dysfunction in asymptomatic carriers of ornithine transcarbamylase deficiency.

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31.

Kline JJ et al. (1981) Arginine deficiency syndrome. Its occurrence in carbamyl phosphate synthetase deficiency.

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32.

Yudkoff M et al. (1980) Ornithine transcarbamylase deficiency in a boy with normal development.

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33.

Michels VV et al. (1982) Ornithine transcarbamylase deficiency: long-term survival.

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34.

Bowling F et al. (1999) Maternal gonadal mosaicism causing ornithine transcarbamylase deficiency.

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35.

Batshaw ML et al. (1982) Treatment of inborn errors of urea synthesis: activation of alternative pathways of waste nitrogen synthesis and excretion.

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36.

Snodgrass PJ et al. (1978) White cell ornithine transcarbamylase activity cannot detect the liver enzyme deficiency.

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37.

Stoll C et al. (1978) [A new family with mutation of the structural gene of human ornithine carbamoyltransferase].

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38.

Harding BN et al. (1984) Ornithine carbamoyl transferase deficiency: a neuropathological study.

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39.

Oizumi J et al. (1984) Partial ornithine transcarbamylase deficiency associated with recurrent hyperammonemia, lethargy and depressed sensorium.

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40.

Holzgreve W et al. (1984) Prenatal diagnosis of ornithine transcarbamylase deficiency utilizing fetal liver biopsy.

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41.

Rosenberg LE et al. (1983) Biogenesis of ornithine transcarbamylase in spfash mutant mice: two cytoplasmic precursors, one mitochondrial enzyme.

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42.

Hokanson JT et al. (1978) Carrier detection in ornithine transcarbamylase deficiency.

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43.

Brusilow SW et al. (1984) Treatment of episodic hyperammonemia in children with inborn errors of urea synthesis.

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44.

Hoogenraad N et al. (1983) Immunological evidence for an ornithine transcarbamylase lesion resulting in the formation of enzyme with smaller protein subunits.

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45.

Gelehrter TD et al. (1975) Ornithine transcarbamylase deficiency. Unsuccessful therapy of neonatal hyperammonemia with N-carbamyl-L-glutamate and L-arginine.

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46.

Anadiotis G et al. (2001) Ornithine transcarbamylase deficiency and pancreatitis.

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47.

None (2001) Ornithine carbamoyltransferase deficiency.

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48.

McCullough BA et al. (2000) Genotype spectrum of ornithine transcarbamylase deficiency: correlation with the clinical and biochemical phenotype.

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49.

Faiella A et al. (2000) A mouse model for valproate teratogenicity: parental effects, homeotic transformations, and altered HOX expression.

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50.

Shih VE et al. (1978) Ornithine ketoacid transaminase deficiency in gyrate atrophy of the choroid and retina.

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51.

Testai FD et al. (2010) Inherited metabolic disorders and stroke part 2: homocystinuria, organic acidurias, and urea cycle disorders.

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52.

Yorifuji T et al. (1998) X-inactivation pattern in the liver of a manifesting female with ornithine transcarbamylase (OTC) deficiency.

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53.

Tuchman M et al. (1996) Relative frequency of mutations causing ornithine transcarbamylase deficiency in 78 families.

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54.

None (1993) Mutations and polymorphisms in the human ornithine transcarbamylase gene.

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55.

Ardinger HH et al. (1988) Verification of the fetal valproate syndrome phenotype.

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56.

DeMars R et al. (1976) Abnormal ornithine carbamoyltransferase in mice having the sparse-fur mutation.

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57.

Veres G et al. (1987) The molecular basis of the sparse fur mouse mutation.

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58.

Wareham KA et al. () Age related reactivation of an X-linked gene.

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59.

Maddalena A et al. (1988) Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency.

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60.

Ohtake A et al. (1986) Molecular basis of ornithine transcarbamylase deficiency in spf and spf-ash mutant mice.

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61.

Fox JE et al. (1986) Identification and application of additional restriction fragment length polymorphisms at the human ornithine transcarbamylase locus.

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62.

Rozen R et al. () Gene deletion and restriction fragment length polymorphisms at the human ornithine transcarbamylase locus.

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63.

Maddalena A et al. (1988) Mosaicism for an intragenic deletion in a boy with mild ornithine transcarbamylase deficiency.

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64.

Grompe M et al. (1991) Improved molecular diagnostics for ornithine transcarbamylase deficiency.

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65.

Wettke-Schäfer R et al. (1983) X-linked dominant inherited diseases with lethality in hemizygous males.

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66.

Lee JY et al. (2002) A case of acrodermatitis enteropathica-like dermatosis caused by ornithine transcarbamylase deficiency.

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67.

Cavard C et al. (1988) Correction of mouse ornithine transcarbamylase deficiency by gene transfer into the germ line.

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68.

Winter RM et al. (1987) Fetal valproate syndrome: is there a recognisable phenotype?

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69.

Kodama H et al. (1986) Ornithine transcarbamylase deficiency: a case with a truncated enzyme precursor and a case with undetectable mRNA activity.

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70.

Schwartz M et al. (1986) Detection and exclusion of carriers of ornithine transcarbamylase deficiency by RFLP analysis.

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71.

Nussbaum RL et al. (1986) New mutation and prenatal diagnosis in ornithine transcarbamylase deficiency.

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72.

Pembrey ME et al. (1985) Prenatal diagnosis of ornithine carbamoyl transferase deficiency using a gene specific probe.

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73.

Kay JD et al. (1986) Valproate toxicity and ornithine carbamoyltransferase deficiency.

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74.

Old JM et al. (1985) Prenatal exclusion of ornithine transcarbamylase deficiency by direct gene analysis.

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75.

Arn PH et al. (1990) Hyperammonemia in women with a mutation at the ornithine carbamoyltransferase locus. A cause of postpartum coma.

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76.

Hauser ER et al. (1990) Allopurinol-induced orotidinuria. A test for mutations at the ornithine carbamoyltransferase locus in women.

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77.

Pelet A et al. (1990) Carrier detection in a partially dominant X-linked disease: ornithine transcarbamylase deficiency.

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78.

Finkelstein JE et al. (1990) Late-onset ornithine transcarbamylase deficiency in male patients.

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79.

Hopkins IJ et al. (1969) Hyperammonaemia due to ornithine transcarbamylase deficiency.

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80.

Nagata N et al. (1991) Estimated frequency of urea cycle enzymopathies in Japan.

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81.

Matsuda I et al. (1991) Retrospective survey of urea cycle disorders: Part 1. Clinical and laboratory observations of thirty-two Japanese male patients with ornithine transcarbamylase deficiency.

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82.

Lien J et al. (2007) Fatal initial adult-onset presentation of urea cycle defect.

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83.

Maestri NE et al. (1991) Prospective treatment of urea cycle disorders.

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84.

Honeycutt D et al. (1992) Heterozygote ornithine transcarbamylase deficiency presenting as symptomatic hyperammonemia during initiation of valproate therapy.

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85.

RUSSELL A et al. (1962) Hyperammonaemia. A new instance of an inborn enzymatic defect of the biosynthesis of urea.

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86.

Wilson CJ et al. (2001) Plasma glutamine and ammonia concentrations in ornithine carbamoyltransferase deficiency and citrullinaemia.

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87.

OMIM.ORG article

Omim 311250 external link
88.

Orphanet article

Orphanet ID 664 external link
89.

Wikipedia Artikel

Wikipedia DE (Harnstoffzyklusdefekt) external link
Update: 14. August 2020
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