Ontology highlight
ABSTRACT:
SUBMITTER: Haanpaa MK
PROVIDER: S-EPMC6426632 | biostudies-literature | 2019 Mar
REPOSITORIES: biostudies-literature
Haanpää Maria K MK Ng Bobby G BG Gallant Natalie M NM Singh Kathryn E KE Brown Candida C Kimonis Virginia V Freeze Hudson H HH Muller Eric A EA
American journal of medical genetics. Part A 20190124 3
ALG11-Congenital Disorder of Glycosylation (ALG11-CDG, also known as congenital disorder of glycosylation type Ip) is an inherited inborn error of metabolism due to abnormal protein and lipid glycosylation. We describe two unrelated patients with ALG11-CDG due to novel mutations, review the literature of previously described affected individuals, and further expand the clinical phenotype. Both affected individuals reported here had severe psychomotor disabilities and epilepsy. Their fibroblasts ...[more]