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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
doi: 10.3390/jof8020204 133 ReganJ.DeJarnetteC.ReitlerP.GihazS.SrivastavaA.GeW.et al
Yang X, Zheng SG
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