Living with Glycine encephalopathy
Also called nonketotic hyperglycinemia: an inherited condition in which too much glycine builds up, mainly in the brain, starting soon after birth.
Understanding Glycine encephalopathy
It has a severe form, which is more common, and a milder attenuated form. Both usually start shortly after birth, though the attenuated form can start later in infancy. In the severe form babies are very sleepy and have weak muscle tone and breathing problems, and later may have feeding difficulties, stiffness, severe intellectual disability, and hard-to-control seizures. The attenuated form is similar but milder, and many children learn to walk and interact.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Extreme sleepiness (lethargy)
- Low muscle tone (hypotonia)
- Breathing problems
- Poor sucking and feeding difficulties
- Seizures, including myoclonic seizures
- Hiccups that keep coming back
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, genetic specialists and seizure and epilepsy specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Epilepsy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with NKH International Family Network and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in genes cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive). GARD does not name the gene.
Also known as: amt-related glycine encephalopathy; disorder of glycine cleavage enzyme complex; gldc-related glycine encephalopathy; nka; nkh - non-ketotic hyperglycinemia; non ketotic hyperglycinemia
Patient organizations
- NKH International Family NetworkGlycine encephalopathy · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Glycine encephalopathy.
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