Visit Metagene.de!
Summary
GLUTAMINASE DEFICIENCY WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND PROGRESSIVE ATAXIA
GLOBAL DEVELOPMENTAL DELAY, PROGRESSIVE ATAXIA, AND ELEVATED GLUTAMINE GDPAG
618412
OMIM = Online Medalian Inheritance of Men
555064
2q23.2
very rare
autosomal recessive

symptoms
ataxia
developmental delay
dysarthria
hypotonia
onset, childhood
onset, infancy
speech development, delayed, abnormal
tremor or twitching
laboratory finding
Glutamine +€mol/lplasma
Literature
Steinberg SJ,et al.Peroxisome biogenesis disordersBiochim Biophys Acta1763121733-17482006