The initial neonatal symptoms started with respiratory distress, severe metabolic acidosis and a tendency to hypoglycemia.
[ncbi.nlm.nih.gov]
The patient developed signs of severe liver damage and died at 13 days of age after increasing metabolic acidosis and severe bleedings.
[ncbi.nlm.nih.gov]
She has had several episodes of metabolic acidosis with elevated lactate, pyruvate, alanine, beta-hydroxybutyrate, acetoacetate, lysine, and proline values, and undetectably
[ncbi.nlm.nih.gov]