ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelines.
J Inherit Metab Dis
; 45(5): 969-980, 2022 09.
Article
in En
| MEDLINE
| ID: mdl-35716054
ABSTRACT
Congenital disorders of glycosylation are a continuously expanding group of monogenic disorders of glycoprotein and glycolipid glycan biosynthesis. These disorders mostly manifest with multisystem involvement. Individuals with ALG8-CDG commonly present with hypotonia, protein-losing enteropathy, and hepatic involvement. Here, we describe seven unreported individuals diagnosed with ALG8-CDG based on biochemical and molecular testing and we identify nine novel variants in ALG8, bringing the total to 26 individuals with ALG8-CDG in the medical literature. In addition to the typical multisystem involvement documented in ALG8-CDG, our cohort includes the two oldest patients reported and further expands the phenotype of ALG8-CDG to include stable intellectual disability, autism spectrum disorder and other neuropsychiatric symptoms. We further expand the clinical features in a variety of organ systems including ocular, musculoskeletal, dermatologic, endocrine, and cardiac abnormalities and suggest a comprehensive evaluation and monitoring strategy to improve clinical management.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Congenital Disorders of Glycosylation
/
Autism Spectrum Disorder
Type of study:
Diagnostic_studies
/
Guideline
/
Prognostic_studies
Limits:
Humans
Language:
En
Journal:
J Inherit Metab Dis
Year:
2022
Type:
Article
Affiliation country:
United States