Orthopaedic phenotyping of NGLY1 deficiency using an international, family-led disease registry.

ABSTRACT:

Background

NGLY1 deficiency is a rare autosomal recessive disorder caused by loss in enzymatic function of NGLY1, a peptide N-glycanase that has been shown to play a role in endoplasmic reticulum associated degradation (ERAD). ERAD dysfunction has been implicated in other well-described proteinopathies, such as Alzheimer's disease, Parkinson's disease, and Huntington's disease. The classical clinical tetrad includes developmental delay, hypolacrima, transiently elevated transaminases, and hyperkinetic movement disorders. The musculoskeletal system is also commonly affected, but the orthopaedic phenotype has been incompletely characterized. Best practices for orthopaedic clinical care have not been elucidated and considerable variability has resulted from this lack of evidence base.

SUBMITTER: Cahan EM 

PROVIDER: S-EPMC6584998 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature