[Glutaric acidemia/glutaric aciduria I as differential chorea minor diagnosis].

Abstract:

:Glutaracidemia/glutaraciduria type I is an acute or subacute neuropathic disorder of infancy or early childhood. The following symptoms characterize the clinical course: macrocephalus present at birth, cerebral atrophy revealed by CT or MRI scans, most striking in the frontal and temporal lobes, choreoathetosis and dystonia as neurological handicaps. The deficiency of glutaryl-CoA-dehydrogenase leads to glutaracidemia and glutaraciduria. It is reported on a three year old girl. The glutaraciduria is an important differential diagnosis to chorea minor.

journal_name

Klin Padiatr

journal_title

Klinische Padiatrie

authors

Voll R,Hoffmann GF,Lipinski CG,Trefz FK,Weisser J

doi

10.1055/s-2007-1025211

subject

Has Abstract

pub_date

1993-03-01 00:00:00

pages

124-6

issue

2

eissn

0300-8630

issn

1439-3824

journal_volume

205

pub_type

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    doi:

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