Our patient was diagnosed with severe GSSD after neonatal onset, with symptoms including hemolytic anemia, hyperbilirubinemia and severe metabolic acidosis (intractable), urine-organic acid analysis results suggestive of the presence of 5-oxoprolinuria, and imaging results suggestive of central nervous system damage and developmental retardation in the infant at follow-up
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For Alkaline Water: Use acidic solutions like citric acid or install reverse osmosis systems to balance the pH
Corneal confocal microscopy
YTHDF2, YTH, domain family protein 2