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Summary
SERINE DEFIENCY SYNDROME - NEW DISEASE?
  • serine supplementation
atypical presentation of a novel serine deficiency syndrome, no mutations in the 3PGDH, PSAT and PSP gene
symptoms
ataxia
lethargy, drowsiness, malaise or sleep disorder
onset, adulthood
speech difficulties
laboratory finding
Serine decreasedplasma
Glycine decreasedplasma
Literature
Jordens EZet al.Adenine nucleotide translocator 1 deficiency associated with Sengers syndromeAnn Neurol52095-992002