congenital systemic glutamine deficiency

congenital systemic glutamine deficiency

A rare developmental disorder (OMIM:610015) characterised by severe brain malformation, multi-organ failure and neonatal death. Glutamine is largely absent from affected infants’ serum, urine and cerebrospinal fluid.

Molecular pathology
Defects in GLUL cause congenital glutamine deficiency.
Mentioned in ?
Full browser ?