Glycine Encephalopathy
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Glycine Encephalopathy Overview

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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?
Distinguished in Glycine Encephalopathy
Dr. Helio F. Pedro
Pediatrics
Distinguished in Glycine Encephalopathy
Dr. Helio F. Pedro
Pediatrics

Hackensack University Medical Center

30 Prospect Avenue, Pediatric Genetics & Genomics, Wfan, Room 210, 
Hackensack, NJ 
551-996-5264
Languages Spoken:
English
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Helio Pedro is a Pediatrics provider practicing medicine in Hackensack, New Jersey. Dr. Pedro is rated as a Distinguished provider by MediFind in the treatment of Glycine Encephalopathy. He is also highly rated in 4 other conditions, according to our data. His clinical expertise encompasses Glycine Encephalopathy, Biotinidase Deficiency, Dihydropteridine Reductase Deficiency, and Maternal Hyperphenylalaninemia. Dr. Pedro is board certified in American Board Of Medical Genetics And Genomics.

Distinguished in Glycine Encephalopathy
Dr. Marcelino Albuerne
Family Medicine
Distinguished in Glycine Encephalopathy
Dr. Marcelino Albuerne
Family Medicine

Marcelino D. Albuerne M.D. P.A.

516 N Rolling Rd Ste 106, 
Catonsville, MD 
410-744-4044
Languages Spoken:
English
See accepted insurances
Offers Telehealth

Marcelino Albuerne is a primary care provider, practicing in Family Medicine in Catonsville, Maryland. Dr. Albuerne is rated as a Distinguished provider by MediFind in the treatment of Glycine Encephalopathy. He is also highly rated in 15 other conditions, according to our data. His clinical expertise encompasses Glycine Encephalopathy, Anemia, Familial Hypertension, Gastrostomy, and Endoscopy.

 
 
 
 
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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
See accepted insurances
Accepting New Patients
Offers Telehealth

David Patterson is a primary care provider, practicing in Family Medicine in Flat Rock, Michigan. He has been practicing medicine for over 32 years. Dr. Patterson is rated as a Distinguished provider by MediFind in the treatment of Glycine Encephalopathy. He is also highly rated in 37 other conditions, according to our data. His clinical expertise encompasses Glycine Encephalopathy, Homozygous Familial Hypercholesterolemia (HoFH), Defective Apolipoprotein B-100, and Hyperlipoproteinemia Type 4. Dr. Patterson is board certified in American Osteopathic Board Of Family Physicians. Dr. Patterson is currently accepting new patients.

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