Glycine Encephalopathy
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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?
David G. Patterson
Distinguished in Glycine Encephalopathy
Dr. David G. Patterson
Family Medicine
Distinguished in Glycine Encephalopathy
Dr. David G. Patterson
Family Medicine

Flat Rock Physicians

25620 Gibraltar Road, 
Flat Rock, MI 
734-789-9355
Experience:
32+ years
Languages Spoken:
English
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David Patterson is a primary care provider, practicing in Family Medicine in Flat Rock, Michigan. Dr. Patterson has been practicing medicine for over 32 years and is rated as a Distinguished provider by MediFind in the treatment of Glycine Encephalopathy. His top areas of expertise are Glycine Encephalopathy, Defective Apolipoprotein B-100, Hyperlipoproteinemia Type 4, and Heterozygous Familial Hypercholesterolemia (HeFH). Dr. Patterson is currently accepting new patients.

Distinguished in Glycine Encephalopathy
Dr. Richard Smith
Internal Medicine
Distinguished in Glycine Encephalopathy
Dr. Richard Smith
Internal Medicine

Richard Lyndon Smith JR MD PC

1260 Russell Pkwy, 
Warner Robins, GA 
478-929-4100
Languages Spoken:
English
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Richard Smith is a primary care provider, practicing in Internal Medicine in Warner Robins, Georgia. Dr. Smith is rated as a Distinguished provider by MediFind in the treatment of Glycine Encephalopathy. His top areas of expertise are Glycine Encephalopathy, Familial Combined Hyperlipidemia, Xanthoma, Chronic Obstructive Pulmonary Disease (COPD), and Endoscopy.

 
 
 
 
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Distinguished in Glycine Encephalopathy
Magdalena D. Ugarte
Distinguished in Glycine Encephalopathy
Magdalena D. Ugarte
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, Propionic Acidemia, Glycine Encephalopathy, and Methylmalonic Acidemia.

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