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

ePAPER READ

DOWNLOAD ePAPER

erndim.org

Create successful ePaper yourself

Turn your PDF publications into a flip-book with our unique Google optimized e-Paper software.

START NOW

Mutational Analysis

n No mutations in genes for 3-PGDH 3 PGDH or 3-PSP 3 PSP

n Both children compound heterozygotes for

mutations in the PSAT gene

n One frame shift mutation –c.del c.del G107

n One missense mutation –c.299A>C, c.299A>C, p.Asp100Ala

A Common Interest in Amino Acids and ERNDIM and ERNDIM

Biochemical and laboratory aspects of purine and ... - ERNDIM

ERNDIM Training Grant This grant is designed for trainees, in a ...

Polymorphonuclear Leucocyte Preparation - ERNDIM

Internal & external quality control - ERNDIM

Travel Grant Report George van der Watt - ERNDIM

Reporting and commenting on metabolic results - ERNDIM

Clinical symptoms of Defects in pyrimidine metabolism - ERNDIM

Enzyme Assay n Only 3-PGDH 3 PGDH measured, 11.6 mU / mg protein (controls = 29.5 ± 2.7, affected = 6.6, 3.7) *Because these enzyme assays are problematic the decision was made to use mutational analysis to investigate further*

Mutational Analysis n No mutations in genes for 3-PGDH 3 PGDH or 3-PSP 3 PSP n Both children compound heterozygotes for mutations in the PSAT gene n One frame shift mutation –c.del c.del G107 n One missense mutation –c.299A>C, c.299A>C, p.Asp100Ala

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 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

Create successful ePaper yourself

Delete template?

Save as template?