Musculoskeletal manifestations of neonatal nonketotic hyperglycinemia.

ABSTRACT:

Purpose

Neonatal nonketotic hyperglycinemia is an autosomal recessive inborn disorder of glycine metabolism in which large quantities of glycine accumulate in all body tissues. It is characterized by a progressive lethargy, hypotonia, myoclonic jerks, and early death secondary to respiratory problems. As a result of early diagnosis and treatment protocols, more patients survive the critical neonatal period with profound mental retardation, delayed developmental milestones, seizures, and spasticity. There are no reports about the orthopaedic manifestations of neonatal nonketotic hyperglycinemia. The purpose of this study is to evaluate the musculoskeletal findings of neonatal nonketotic hyperglycinemia.

Methods

This is a retrospective IRB-approved study of all patients in our

SUBMITTER: Ramirez N 

PROVIDER: S-EPMC3400000 | biostudies-literature | 2012 Jul

REPOSITORIES: biostudies-literature