A Rare Cause of Spasticity and Microcephaly: Argininemia

A Rare Cause of Spasticity and Microcephaly: Argininemia

Argininemia is an autosomal recessive urea cycle disorder caused by the deficiency of arginase. Our first case presented with psychomotor retardation, difficulty of walking, and progressive tiptoeing. Laboratory investigations revealed mildly elevated hepatic enzymes and elevated plasma arginine con...

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Bibliographic Details
Main Authors: Pembe Soylu Üstkoyuncu, Mustafa Kendirci, Songül Gökay, Fatih Kardaş, Hakan Gümüş, Hüseyin Per, Hatice Gamze Poyrazoğlu, Ayşe Kaçar Bayram, Mehmet Canpolat, Sefer Kumandaş
Format: Article
Language:English
Published: Galenos Yayinevi 2020-09-01
Series:Türk Nöroloji Dergisi
Subjects:
arginase deficiency
microcephaly
spastic paraparesis
urea cycle defect
Online Access:https://www.tjn.org.tr/jvi.aspx?pdir=tjn&plng=eng&un=TJN-97752&look4=

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https://www.tjn.org.tr/jvi.aspx?pdir=tjn&plng=eng&un=TJN-97752&look4=

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