New Disorder of Serine / Glycine Biosynthesis ... - ERNDIM

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Case 1

n Extensive biochemical investigations, only

abnormalities were;

-Plasma Plasma serine = 51 (60-300) (60 300) µmol/L mol/L

-Plasma Plasma glycine = 121 (140-420) (140 420) µmol/L mol/L

CSF serine = 18 (35-80) (35 80) µmol/L mol/L

CSF glycine =

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Case 1 n Extensive biochemical investigations, only abnormalities were; -Plasma Plasma serine = 51 (60-300) (60 300) µmol/L mol/L -Plasma Plasma glycine = 121 (140-420) (140 420) µmol/L mol/L CSF serine = 18 (35-80) (35 80) µmol/L mol/L CSF glycine =

Serine and Glycine Biosynthesis Glucose 3-P-Glycerate Pyruvate 1 2 3 3-P-hydroxypyruvate 1 = 3-P-glycerate dehydrogenase 2 = 3-P-serine aminotransferase 3 = 3-P-serine phosphatase 4 = serine hydroxymethyl transferase 5= Glycine cleavage system (NKH) 3-Pserine serine glycine NH3 + CO2 4 5 THF MTHF

Page 1 and 2: New Disorder of Serine / Glycine Bi
Page 6 and 7: n Skin biopsy taken for enzyme assa
Page 8 and 9: n Sister of Case 1 Case 2 n Monitor
Page 10 and 11: Enzyme Assay n Only 3-PGDH 3 PGDH m
Page 12 and 13: Missense Mutation -pathogenic? path
Page 14 and 15: Conclusions n The first two cases o

New Disorder of Serine / Glycine Biosynthesis ... - ERNDIM

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