Congenital systemic glutamine deficiency
Definition:
Congenital systemic glutamine deficiency (CSGD) is a rare developmental disorder with severe brain malformation resulting in multi-organ failure and neonatal death. Glutamine synthetase plays a major role in ammonia detoxification, interorgan nitrogen flux, acid-base homeostasis, and cell signaling. It has been reported that glutamine was largely absent from affected patients serum, urine, and cerebrospinal fluid.
References:
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[1]. Johannes Häberle, et al. Inborn error of amino acid synthesis: human glutamine synthetase deficiency. J Inherit Metab Dis. 2006 Apr-Jun;29(2-3):352-8. [Content Brief]
[2]. Stefan Kölker, et al. Congenital glutamine deficiency with glutamine synthetase mutations. N Engl J Med. 2006 Mar 9;354(10):1093-4; author reply 1093-4. [Content Brief]
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