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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?
Experienced in Glycine Encephalopathy
Family Medicine
Experienced in Glycine Encephalopathy
Family Medicine

Christus Trinity Clinic

5802 Saratoga Blvd, Suite 150, 
Corpus Christi, TX 
Languages Spoken:
English
Accepting New Patients

Jorge Ramirez is a primary care provider, practicing in Family Medicine in Corpus Christi, Texas. Dr. Ramirez is rated as an Experienced provider by MediFind in the treatment of Glycine Encephalopathy. His top areas of expertise are Infant Hyperglycemia, Familial Combined Hyperlipidemia, Xanthoma, and Cirrhosis. Dr. Ramirez is currently accepting new patients.

Experienced in Glycine Encephalopathy
Family Medicine
Experienced in Glycine Encephalopathy
Family Medicine

Mount Carmel Healthproviders Inc

55 N High St, 
New Albany, OH 
Languages Spoken:
English
Accepting New Patients

Angela Smith is a primary care provider, practicing in Family Medicine in New Albany, Ohio. Dr. Smith is rated as an Experienced provider by MediFind in the treatment of Glycine Encephalopathy. Her top areas of expertise are Maturity Onset Diabetes of the Young, Familial Hypertension, Hypertension, and Glucocorticoid-Remediable Aldosteronism. Dr. Smith is currently accepting new patients.

 
 
 
 
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Distinguished in Glycine Encephalopathy
Distinguished in Glycine Encephalopathy
La Paz, MD, ES 

Magdalena Ugarte practices in La Paz, Spain. Ms. Ugarte is rated as a Distinguished expert by MediFind in the treatment of Glycine Encephalopathy. Her top areas of expertise are Maple Syrup Urine Disease, Glycine Encephalopathy, Propionic Acidemia, and Methylmalonic Acidemia.

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