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D-Bifunctional protein deficiency is an au … D-Bifunctional protein deficiency is an autosomal recessive peroxisomal fatty acid oxidation disorder. Peroxisomal disorders are usually caused by a combination of peroxisomal assembly defects or by deficiencies of specific peroxisomal enzymes. The peroxisome is an organelle in the cell similar to the lysosome that functions to detoxify the cell. Peroxisomes contain many different enzymes, such as catalase, and their main function is to neutralize free radicals and detoxify drugs. For this reason peroxisomes are ubiquitous in the liver and kidney. D-BP deficiency is the most severe peroxisomal disorder, often resembling Zellweger syndrome. Characteristics of the disorder include neonatal hypotonia and seizures, occurring mostly within the first month of life, as well as visual and hearing impairment. Other symptoms include severe craniofacial disfiguration, psychomotor delay, and neuronal migration defects. Most onsets of the disorder begin in the gestational weeks of development and most affected individuals die within the first two years of life.ls die within the first two years of life.
, Das Pseudo-Zellweger-Syndrom ist eine nich … Das Pseudo-Zellweger-Syndrom ist eine nicht mehr gebräuchliche Bezeichnung für D-bifunktionalen Enzym-Mangel (DBP-Mangel), eine sehr seltene angeborene Erkrankung mit einer Störung des Fettsäurestoffwechsels in den Peroxisomen. Die Erkrankung wird mit dem neonatalen Refsum-Syndrom (IRD) und der neonatalen Adrenoleukodystrophie (NALD) als (Peroxisomenbiogenesedefekt-Zellweger-Syndrom-Spektrum) zusammengefasst. Gegenüber dem „echten“ Zellweger-Syndrom sind weiterhin das CADDS, Synonyme: Zellweger-ähnliches-Contiguous gene deletion-Syndrom; ABCD1-DXS1357E-Contiguous deletion-Syndrom und das Ahn-Lerman-Sagie-Syndrom, Synonym: Zellweger-ähnliches Syndrom ohne Anomalien der Peroxysomen abzugrenzen. Synonyme sind: Thiolase-Mangel; englisch D-Bifunctional Protein Deficiency; 17-Beta-Hydroxysteroid Dehydrogenase IV Deficiency; DBP Deficiency; Peroxisomal Bifunctional Enzyme Deficiency; PBFE Deficiency Die Erstbeschreibung stammt aus dem Jahre 1989 durch P. A. Watkins und Mitarbeiter. 1989 durch P. A. Watkins und Mitarbeiter.
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Das Pseudo-Zellweger-Syndrom ist eine nich … Das Pseudo-Zellweger-Syndrom ist eine nicht mehr gebräuchliche Bezeichnung für D-bifunktionalen Enzym-Mangel (DBP-Mangel), eine sehr seltene angeborene Erkrankung mit einer Störung des Fettsäurestoffwechsels in den Peroxisomen. Die Erkrankung wird mit dem neonatalen Refsum-Syndrom (IRD) und der neonatalen Adrenoleukodystrophie (NALD) als (Peroxisomenbiogenesedefekt-Zellweger-Syndrom-Spektrum) zusammengefasst. Die Erstbeschreibung stammt aus dem Jahre 1989 durch P. A. Watkins und Mitarbeiter. 1989 durch P. A. Watkins und Mitarbeiter.
, D-Bifunctional protein deficiency is an au … D-Bifunctional protein deficiency is an autosomal recessive peroxisomal fatty acid oxidation disorder. Peroxisomal disorders are usually caused by a combination of peroxisomal assembly defects or by deficiencies of specific peroxisomal enzymes. The peroxisome is an organelle in the cell similar to the lysosome that functions to detoxify the cell. Peroxisomes contain many different enzymes, such as catalase, and their main function is to neutralize free radicals and detoxify drugs. For this reason peroxisomes are ubiquitous in the liver and kidney. D-BP deficiency is the most severe peroxisomal disorder, often resembling Zellweger syndrome.rder, often resembling Zellweger syndrome.
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D-bifunctional protein deficiency
, Pseudo-Zellweger-Syndrom
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