D-Glyceric acidemia: Difference between revisions
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==Overview== | ==Overview== | ||
'''Glycine encephalopathy''', also known as '''non-ketotic hyperglycinemia''' or '''NKH''', is an [[autosomal recessive]] [[metabolic disorder]] characterized by abnormally high levels of the amino acid [[glycine]]. Glycine acts as a [[neurotransmitter]], which is a chemical messenger that transmits signals in the brain. | '''Glycine encephalopathy''', also known as '''non-ketotic hyperglycinemia''' or '''NKH''', is an [[autosomal recessive]] [[metabolic disorder]] characterized by abnormally high levels of the amino acid [[glycine]]. Glycine acts as a [[neurotransmitter]], which is a chemical messenger that transmits signals in the brain. | ||
Glycine encephalopathy is caused by the shortage of an enzyme that normally breaks down glycine in the body. A lack of this enzyme allows excess glycine to build up in tissues and organs, particularly the brain, leading to serious medical problems. | Glycine encephalopathy is caused by the shortage of an enzyme that normally breaks down glycine in the body. A lack of this enzyme allows excess glycine to build up in tissues and organs, particularly the brain, leading to serious medical problems. | ||
==Historical Perspective== | |||
==Classification== | ==Classification== | ||
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==Pathophysiology== | ==Pathophysiology== | ||
===Genetics=== | ===Genetics=== | ||
[[Image:autorecessive.jpg|thumb|left|{{PAGENAME}} has an autosomal recessive pattern of inheritance.]] | [[Image:autorecessive.jpg|thumb|left|{{PAGENAME}} has an autosomal recessive pattern of inheritance.]] | ||
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This disorder is inherited in an [[recessive gene|autosomal recessive]] pattern, which means the defective gene is located on an [[autosome]], and two copies of the gene - one from each parent - are required to be born with the disorder. The parents of an individual with an autosomal recessive disorder each carry one copy of the defective gene, but do not show signs or symptoms of the disorder. | This disorder is inherited in an [[recessive gene|autosomal recessive]] pattern, which means the defective gene is located on an [[autosome]], and two copies of the gene - one from each parent - are required to be born with the disorder. The parents of an individual with an autosomal recessive disorder each carry one copy of the defective gene, but do not show signs or symptoms of the disorder. | ||
==Causes== | |||
==Differentiating {{PAGENAME}} from Other Diseases== | |||
==Epidemiology and Demographics== | |||
==Risk Factors== | |||
==Screening== | |||
==Natural History, Complications, and Prognosis== | |||
==Diagnosis== | |||
===Diagnostic Criteria=== | |||
===History and Symptoms=== | |||
===Physical Examination=== | |||
===Laboratory Findings=== | |||
===Imaging Findings=== | |||
===Other Diagnostic Studies=== | |||
==Treatment== | |||
===Medical Therapy=== | |||
===Surgery=== | |||
===Prevention=== | |||
==Related Chapters== | ==Related Chapters== | ||
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* GeneReview [http://www.geneclinics.org/servlet/access?db=geneclinics&site=gt&id=8888892&key=19Z5K92WsOwuU&gry=&fcn=y&fw=GHf7&filename=/profiles/nkh/index.html] | * GeneReview [http://www.geneclinics.org/servlet/access?db=geneclinics&site=gt&id=8888892&key=19Z5K92WsOwuU&gry=&fcn=y&fw=GHf7&filename=/profiles/nkh/index.html] | ||
* National Library of Medicine Genetics Home Reference [http://ghr.nlm.nih.gov/condition=glycineencephalopathy] | * National Library of Medicine Genetics Home Reference [http://ghr.nlm.nih.gov/condition=glycineencephalopathy] | ||
==References== | |||
{{reflist|2}} | |||
{{Amino acid metabolic pathology}} | {{Amino acid metabolic pathology}} | ||
[[ | [[Category:Endocrinology]] | ||
[[Category:Disease]] | |||
{{WH}} | {{WH}} | ||
{{WS}} | {{WS}} | ||
Latest revision as of 13:52, 22 July 2016
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
| D-Glyceric acidemia | |
| OMIM | 220120 |
|---|---|
| DiseasesDB | 29857 |
Overview
Glycine encephalopathy, also known as non-ketotic hyperglycinemia or NKH, is an autosomal recessive metabolic disorder characterized by abnormally high levels of the amino acid glycine. Glycine acts as a neurotransmitter, which is a chemical messenger that transmits signals in the brain.
Glycine encephalopathy is caused by the shortage of an enzyme that normally breaks down glycine in the body. A lack of this enzyme allows excess glycine to build up in tissues and organs, particularly the brain, leading to serious medical problems.
Historical Perspective
Classification
Classic neonatal form or classic form
Most patients with GCE have the neonatal phenotype, presenting in the first few days of life with lethargy, hypotonia, and myoclonic jerks,and progressing to apnea, and often to death. Those who regain spontaneous respiration develop intractable seizures and profound mental retardation.
Infantile form
Patients present with seizures and have various degrees of mental retardation after a symptom-free interval and seemingly normal development for up to 6 months.
Mild-episodic form
Patients present in childhood with mild mental retardation and episodes of delirium, chorea, and vertical gaze palsy during febrile illness.
Late-onset form
Patients present in childhood with progressive spastic diplegia and optic atrophy, but intellectual function is preserved and seizures have not been reported
Atypical form
Unlike the classic neonatal form of the disorder, atypical or mild glycine encephalopathy is phenotypically heterogeneous and nonspecific, making diagnosis difficult. The occurrence of an expressive speech deficit and neurologic abnormalities during intercurrent infections as striking features of the milder form of the disease.
Transient Form
Transient neonatal hyperglycinemia (TNH) is characterized by elevated plasma and CSF glycine levels at birth that are normalized within 2 to 8 weeks. TNH is clinically and biochemically indistinguishable from typical nonketotic hyperglycinemia at onset.
Pathophysiology
Genetics
Mutations in the AMT and GLDC genes cause glycine encephalopathy. About 80 percent of cases of glycine encephalopathy result from mutations in the GLDC gene, while AMT mutations cause 10 percent to 15 percent of all cases. In a small percentage of affected individuals, the cause of this condition is unknown.
The AMT and GLDC genes provide instructions for making proteins that work together as part of a larger enzyme complex. This complex, known as glycine cleavage enzyme, is responsible for breaking down glycine into smaller pieces. Mutations in either the AMT or GLDC gene prevent the complex from breaking down glycine properly. When glycine cleavage enzyme is defective, excess glycine can build up to toxic levels in the body's organs and tissues. Damage caused by harmful amounts of this molecule in the brain and spinal cord is responsible for the mental retardation, seizures, and breathing difficulties characteristic of glycine encephalopathy.
This disorder is inherited in an autosomal recessive pattern, which means the defective gene is located on an autosome, and two copies of the gene - one from each parent - are required to be born with the disorder. The parents of an individual with an autosomal recessive disorder each carry one copy of the defective gene, but do not show signs or symptoms of the disorder.
Causes
Differentiating D-Glyceric acidemia from Other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications, and Prognosis
Diagnosis
Diagnostic Criteria
History and Symptoms
Physical Examination
Laboratory Findings
Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
Surgery
Prevention
Related Chapters
External links
- National Library of Medicine. Glycine encephalopathy
- NKH-International Family Network [2]
- GeneReview [3]
- National Library of Medicine Genetics Home Reference [4]