Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Hereditäre Störungen des Proteinmetabolismus

Hereditäre Störungen des Proteinmetabolismus umfassen verschiedene genetisch bedingte Störungen der Zusammensetzung und der Verstoffwechselung von Proteinen.

Gliederung

Erbliche Stoffwechselerkrankungen
Coenzym Q10-Mangel
Erbliche Fettstoffwechselerkrankungen
Genetisch bedingte Hyperbilirubinämie
Glycolipidose
HADH-Mangel
Hereditäre Störungen des Proteinmetabolismus
Acoeruloplasminämie/Hypocoeruloplasminämie
CP
Kongenitale Analbuminämie
ALB
Hyperkatabole Hypoproteinämie
Hyperzinkämie und Hypercalprotectinämie
Hypomagnesiämie
Hypomethylierungs-Syndrom
Kongenitale Glykosilierungsstörung
Lebensmittelunverträglichkeiten
Lysosomale Speicherkrankheiten
MELAS-Syndrom
Methioninadenosyltransferase-Mangel
Methylmalonazidurie
Störungen des Cobalaminstoffwechsels
Störungen des Eisenstoffwechsels
Störungen des Glucosestoffwechsels
Störungen des Harnstoffzyklus
Störungen des Harnsäurestoffwechsels
Störungen des Phosphathaushaltes

Referenzen:

1.

Boman H et al. (1976) Analbuminemia in an American Indian girl.

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2.

Ruffner DE et al. (1988) Splicing mutation in human hereditary analbuminemia.

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3.

Campagnoli M et al. (2002) A novel splicing mutation causes an undescribed type of analbuminemia.

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4.

Caridi G et al. (2019) A novel insertion (c.1098dupT) in the albumin gene causes analbuminemia in a consanguineous family.

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5.

Morita H et al. (1992) [A case of ceruloplasmin deficiency which showed dementia, ataxia and iron deposition in the brain].

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6.

Hahn P et al. (2004) Disruption of ceruloplasmin and hephaestin in mice causes retinal iron overload and retinal degeneration with features of age-related macular degeneration.

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7.

Krawczak M et al. (1991) Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment.

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8.

Miyajima H et al. (1987) Familial apoceruloplasmin deficiency associated with blepharospasm and retinal degeneration.

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9.

Lee GR et al. (1968) Iron metabolism in copper-deficient swine.

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10.

Osaki S et al. (1966) The possible significance of the ferrous oxidase activity of ceruloplasmin in normal human serum.

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11.

Yoshida K et al. (1995) A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans.

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12.

Harris ZL et al. (1995) Aceruloplasminemia: molecular characterization of this disorder of iron metabolism.

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13.

Okamoto N et al. (1996) Hereditary ceruloplasmin deficiency with hemosiderosis.

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14.

Takahashi Y et al. (1996) Characterization of a nonsense mutation in the ceruloplasmin gene resulting in diabetes and neurodegenerative disease.

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15.

Roy CN et al. (2001) Recent advances in disorders of iron metabolism: mutations, mechanisms and modifiers.

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16.

Edwards CQ et al. (1979) Hereditary hypoceruloplasminemia.

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17.

None (1980) Pharmacology of blepharospasm-oromandibular dystonia syndrome.

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18.

Tanner CM et al. (1982) Meige disease: acute and chronic cholinergic effects.

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19.

Morita H et al. (1995) Hereditary ceruloplasmin deficiency with hemosiderosis: a clinicopathological study of a Japanese family.

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20.

Miyajima H et al. (1997) Use of desferrioxamine in the treatment of aceruloplasminemia.

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21.

Nagase S et al. (1979) Albumin-deficient rat mutant.

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22.

Cormode EJ et al. (1975) Analbuminemia in a neonate.

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23.

Shalaby F et al. (1990) Exon skipping during splicing of albumin mRNA precursors in Nagase analbuminemic rats.

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24.

Mendel CM et al. (1989) Thyroxine transport and distribution in Nagase analbuminemic rats.

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25.

Murray JC et al. (1983) Molecular genetics of human serum albumin: restriction enzyme fragment length polymorphisms and analbuminemia.

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26.

Esumi H et al. (1983) A seven-base-pair deletion in an intron of the albumin gene of analbuminemic rats.

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27.

Esumi H et al. (1980) Absence of albumin mRNA in the liver of analbuminemic rats.

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28.

Esumi H et al. (1982) Presence of albumin mRNA precursors in nuclei of analbuminemic rat liver lacking cytoplasmic albumin mRNA.

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29.

Dammacco F et al. (1980) Analbuminemia: report of a case and review of the literature.

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30.

Watkins S et al. (1994) Analbuminemia: three cases resulting from different point mutations in the albumin gene.

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31.

None (1996) Bennhold's analbuminemia: a follow-up study of the first two cases (1953-1992).

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32.

Lyon AW et al. (1998) Influence of methodology on the detection and diagnosis of congenital analbuminemia.

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33.

BENNHOLD H et al. (1959) Comparative studies on the half-life of I 131-labeled albumins and nonradioactive human serum albumin in a case of analbuminemia.

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34.

Logan JI et al. (1994) Hereditary caeruloplasmin deficiency, dementia and diabetes mellitus.

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Update: 8. Juni 2020