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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
L-Serine decreasedplasma
Glycine decreasedplasma
Literature
Jordens EZet al.Adenine nucleotide translocator 1 deficiency associated with Sengers syndromeAnn Neurol52095-992002