Congenital disorder of glycosylation type Ia in a 6-year-old girl with a mild intellectual phenotype: two novel PMM2 mutations

D Coman; S Klingberg; D Morris; J McGill; H Mercer

doi:10.1007/s10545-005-0166-y

Congenital disorder of glycosylation type Ia in a 6-year-old girl with a mild intellectual phenotype: two novel PMM2 mutations

J Inherit Metab Dis. 2005;28(6):1189-90. doi: 10.1007/s10545-005-0166-y.

Authors

D Coman¹, S Klingberg, D Morris, J McGill, H Mercer

Affiliation

¹ Department of Metabolic Medicine, The Royal Children's Hospital Brisbane, Queensland, Australia. david_coman@health.qld.gov.au

PMID: 16435227
DOI: 10.1007/s10545-005-0166-y

Abstract

We report two novel mutations in the PMM2 gene in a girl with congenital disorder of gylcosylation type Ia (CDG Ia) and a mild intellectual phenotype.

Publication types

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

MeSH terms

Alleles
Carbohydrate Metabolism, Inborn Errors / diagnosis*
Carbohydrate Metabolism, Inborn Errors / pathology*
Child
Developmental Disabilities / diagnosis*
Developmental Disabilities / genetics
Female
Genotype
Glycosylation
Humans
Leukocytes / metabolism
Mutation
Phenotype
Phosphotransferases (Phosphomutases) / genetics*
Time Factors
Transferrin

Substances

Transferrin
Phosphotransferases (Phosphomutases)
phosphomannomutase