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

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Missense Mutation –pathogenic? pathogenic? n Replaces a well conserved aspartate residue with alanine n Comparison with the crystal structure of E. Coli PSAT indicates a loss of hydrogen bonding between loops when aspartate is replaced by alanine that would be expected to have a deleterious effect on protein folding n Expression studies produced a yield of mutant protein 10 fold lower than the wildtype, wildtype, with a Vmax max of about 15% of that of the wildtype
PSAT Deficiency n Low plasma and CSF serine and glycine n Acquired microcephaly n Severe, intractable seizures n Hypertonia n psychomotor retardation n This is a severe neurometabolic disorder with a poor outcome unless treatment is started presymptomatically
Page 1 and 2: New Disorder of Serine / Glycine Bi
Page 4 and 5: Case 1 n Extensive biochemical inve
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 14 and 15: Conclusions n The first two cases o

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

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