3-Phosphoglycerate dehydrogenase deficiency and 3-phosphoserine phosphatase deficiency: inborn errors of serine biosynthesis

J Inherit Metab Dis. 1996;19(2):223-6. doi: 10.1007/BF01799435.

Authors

J Jaeken¹, M Detheux, L Van Maldergem, J P Frijns, P Alliet, M Foulon, H Carchon, E Van Schaftingen

Affiliation

¹ Department of Paediatrics, University of Leuven, Belgium.

PMID: 8739971
DOI: 10.1007/BF01799435

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Amino Acid Metabolism, Inborn Errors / enzymology*
Amino Acid Metabolism, Inborn Errors / genetics
Brain Diseases / enzymology
Carbohydrate Dehydrogenases / deficiency*
Child
Chromosomes, Human, Pair 7
Consanguinity
Humans
Infant
Male
Phosphoglycerate Dehydrogenase
Phosphoric Monoester Hydrolases / deficiency*
Phosphoric Monoester Hydrolases / genetics
Serine / biosynthesis*
Serine / cerebrospinal fluid

Substances

Serine
Carbohydrate Dehydrogenases
Phosphoglycerate Dehydrogenase
Phosphoric Monoester Hydrolases
phosphoserine phosphatase