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Glutathione synthetase deficiency is the most frequently recognized disorder and, in its severe form, it is associated with hemolytic anemia, metabolic acidosis, 5-oxoprolinuria, central nervous system (CNS) damage and recurrent bacterial infections
Common Side Effects Experienced by some users Hypoglycemia (low blood sugar) This is the most important side effect to understand
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Enrichment analysis used the clusterProfiler R package with BH multiple testing correction
Body aches are common, and the cause remains unclear, though it may involve immune dysfunction or viral triggers
The remainder had a confirmed genetic cause including patients with contiguous deletions of TNXB and CYP21A2 , 3,6,7 whole TNXB gene deletions, and intragenic homozygous and compound heterozygous pathogenic variants
