Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
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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.

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

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2.

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

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3.

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

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4.

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

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5.

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

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6.

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

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7.

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

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8.

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

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9.

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

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10.

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

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11.

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

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12.

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

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13.

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

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14.

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

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15.

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

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16.

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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17.

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

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18.

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

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19.

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

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20.

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

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21.

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

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22.

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

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23.

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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24.

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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25.

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

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26.

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

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27.

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

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28.

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

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29.

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

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30.

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

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31.

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

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32.

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

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33.

Edwards CQ et al. (1979) Hereditary hypoceruloplasminemia.

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34.

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

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Update: 14. August 2020
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