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Summary
CONGENITAL GLUTAMINE DEFICIENCY GLUTAMINE SYNTHASE DEFICIENCY
GLUTAMINE SYNTHASE DEFICIENCY, CONGENITAL SYSTEMIC
610015
OMIM = Online Medalian Inheritance of Men
71278
1q25.3
very rare
autosomal recessive
symptoms
apnea
brain malformation
developmental delay
diarrhea
dysmorphism
early death
encephalopathy
hyperammonemia
hyperreflexia
hypotonia
limb abnormalities, limb deformities
onset, neonatal
respiratory insufficiency
seizures
skin rash, eczematous or seborrhoic
laboratory finding
CT, brain, abnormalities -
L-Glutamine decreasedserum
L-Glutamine0.000.00 decreasedurineno data
L-Glutamine decreasedcerebrospinal fluid
Literature
Meyer-Bahlburg HFet al.Cognitive and motor development of children with and without congenital adrenal hyperplasia after early-prenatal dexamethasoneJ Clin Endocrinol Metab892610-6142004
Simell OJohansson T, Aula PEnzyme defect in saccharopinuriaJ Pediatr82154-571973
Sacksteder KAet al.Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemiaAm J Hum Genet6661736-17432000
Carson NAet al.Saccharopinuria: a new inborn error of lysine metabolismNature21806791968
Santer Ret al.The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndromeHum Genet110121-292002