Rosentreter, A., Gaki, S., Dinslage, S. and Dietlein, T. S. (2012). Juvenile glaucoma in propionic acidemia. Ophthalmologe, 109 (12). S. 1211 - 1214. NEW YORK: SPRINGER. ISSN 0941-293X

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Abstract

Propionic acidemia (PA) is a rare autosomal recessive disorder resulting from deficiency of the biotin-dependent enzyme propionyl-CoA carboxylase, which is necessary for the catabolism of branched chain amino acids and odd-chain fatty acids. Although optic atrophy was documented in four cases, no glaucomatous optic atrophy has yet been described. This article describes the first case of a 12-year-old boy with PA showing bilateral glaucomatous optic disc atrophy due to dysgenetic changes of the angle of the anterior chamber.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Rosentreter, A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gaki, S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dinslage, S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dietlein, T. S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-477548
DOI: 10.1007/s00347-012-2596-x
Journal or Publication Title: Ophthalmologe
Volume: 109
Number: 12
Page Range: S. 1211 - 1214
Date: 2012
Publisher: SPRINGER
Place of Publication: NEW YORK
ISSN: 0941-293X
Language: German
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
METABOLISM; DISORDERSMultiple languages
OphthalmologyMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/47754

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