Glycine Encephalopathy Overview

Save information for later
Sign Up

Learn About Glycine Encephalopathy

What is the definition of Glycine Encephalopathy?
Glycine encephalopathy is an inherited metabolic disease characterized by abnormally high levels of an amino acid called glycine. Glycine is a chemical messenger that transmits signals in the brain. According to the symptoms the disease onset, Glycine encephalopathy may be divided in 4 forms. Classical neonatal form (most common): Symptoms start within a few days of life and may include poor feeding, lack of energy (lethargy), weak muscle tone (hypotonia), hiccups, breathing problems, seizures, hiccups, and coma. Transient form: Symptoms are similar to the classic form, but glycine levels decrease and the symptoms may improve within time. Glycine encephalopathy is caused by changes in the AMT, GLDC or GCSH genes which result in a deficiency of the enzyme that break-up the glycine. Diagnosis is based in the symptoms, the high glycine levels and the enzyme deficiency, as well as genetic testing. Inheritance is autosomal recessive.
What are the alternative names for Glycine Encephalopathy?
  • Glycine encephalopathy
  • Glycine synthase deficiency
  • Hyperglycinemia nonketotic
  • Non-ketotic hyperglycinemia
  • Nonketotic hyperglycinemia
Who are the top Glycine Encephalopathy Local Doctors?
Advanced in Glycine Encephalopathy
Dr. Mary L. Giovetti
Family Medicine
Advanced in Glycine Encephalopathy
Dr. Mary L. Giovetti
Family Medicine

Northwest Community Health Care

36 Bridge Way, 
Pascoag, RI 
 (10.1 mi)
401-567-0800
Experience:
40+ years
Languages Spoken:
English
See accepted insurances

Mary Giovetti is a Family Medicine provider in Pascoag, Rhode Island. Dr. Giovetti has been practicing medicine for over 40 years and is rated as an Advanced provider by MediFind in the treatment of Glycine Encephalopathy. Her top areas of expertise are Arthrogryposis Multiplex Congenita Neurogenic Type, Arthrogryposis Multiplex Congenita, Kuskokwim Syndrome, and Freeman Sheldon Syndrome.

Advanced in Glycine Encephalopathy
Dr. Eric E. Guardino
Internal Medicine
Advanced in Glycine Encephalopathy
Dr. Eric E. Guardino
Internal Medicine
16 Clarke St, Unit B4, 
Lexington, MA 
 (34.0 mi)
781-863-6053
Experience:
40+ years
Languages Spoken:
English

Eric Guardino is an Internal Medicine provider in Lexington, Massachusetts. Dr. Guardino has been practicing medicine for over 40 years and is rated as an Advanced provider by MediFind in the treatment of Glycine Encephalopathy. His top areas of expertise are Glycine Encephalopathy, Necrotizing Vasculitis, Nasal Flaring, and Infant Hyperglycemia.

 
 
 
 
Learn about our expert tiers
Learn More
Experienced in Glycine Encephalopathy
Dr. Maria A. Rodrigues
Internal Medicine
Experienced in Glycine Encephalopathy
Dr. Maria A. Rodrigues
Internal Medicine
32 S Main St, Suite 200, 
Randolph, MA 
 (26.6 mi)
781-986-1368
Languages Spoken:
English
Accepting New Patients
Offers Telehealth

Maria Rodrigues is an Internal Medicine provider in Randolph, Massachusetts. Dr. Rodrigues and is rated as an Experienced provider by MediFind in the treatment of Glycine Encephalopathy. Her top areas of expertise are High Cholesterol, Familial Hypertension, Hypertension, and Glucocorticoid-Remediable Aldosteronism. Dr. Rodrigues is currently accepting new patients.

View All Doctors
What are the latest Glycine Encephalopathy Clinical Trials?
Match to trials
Find the right clinical trials for you in under a minute
Get started
View All Clinical Trials
Who are the sources who wrote this article ?

Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center