The patient’s syndrome and genetic testing are consistent with classic galactosemia.  Most untreated patients have severe complications, and it is unclear why this patient survived.  She displayed several complications reported in patients with treated galactosemia, including cerebellar atrophy, tremor, dystonia, and cognitive dysfunction.  The stability of her symptoms through adulthood suggests her symptoms resulted from damage sustained in the neonatal period, and not progressive toxicity or neurodegeneration.  Finally, ovarian failure with associated movement disorders or cerebellar atrophy is a clinical clue, as the differential for movement disorders and ovarian failure is narrow, and includes galactosemia, Fragile X-associated Tremor Ataxia Syndrome, and eukaryotic initiation factor 2B disorders (Vanishing White Matter Disease).