Congenital brain dysgenesis due to glutamine synthetase deficiency

Orpha code: 71278OMIM code: 610015

Definition

A rare neurometabolic disease characterized by neonatal onset of severe epileptic encephalopathy with brain malformations (including cerebral and cerebellar atrophy, white matter abnormalities, delayed gyration or complete agyria, and thin corpus callosum), generalized hypotonia, and lack of normal development. Additional features include facial dysmorphism and necrolytic erythema of the skin. Biochemical hallmarks are decreased levels of glutamine in body fluids and chronic hyperammonemia. Death may occur in the early post-natal period due to multiple organ failure.

Disease data
Classification

Disease

Synonyms
Inherited GS deficiency
Dziedziczny Niedobór GS
Dziedziczny Niedobór syntetazy glutaminy
Inherited glutamine synthetase deficiency
ORPHA code
71278
OMIM code
610015
ICD10 code
E72.8
ICD11 code
-

No additional description.

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