D-Glyceric acidemia

Jump to navigation Jump to search

WikiDoc Resources for D-Glyceric acidemia

Articles

Most recent articles on D-Glyceric acidemia

Most cited articles on D-Glyceric acidemia

Review articles on D-Glyceric acidemia

Articles on D-Glyceric acidemia in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on D-Glyceric acidemia

Images of D-Glyceric acidemia

Photos of D-Glyceric acidemia

Podcasts & MP3s on D-Glyceric acidemia

Videos on D-Glyceric acidemia

Evidence Based Medicine

Cochrane Collaboration on D-Glyceric acidemia

Bandolier on D-Glyceric acidemia

TRIP on D-Glyceric acidemia

Clinical Trials

Ongoing Trials on D-Glyceric acidemia at Clinical Trials.gov

Trial results on D-Glyceric acidemia

Clinical Trials on D-Glyceric acidemia at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on D-Glyceric acidemia

NICE Guidance on D-Glyceric acidemia

NHS PRODIGY Guidance

FDA on D-Glyceric acidemia

CDC on D-Glyceric acidemia

Books

Books on D-Glyceric acidemia

News

D-Glyceric acidemia in the news

Be alerted to news on D-Glyceric acidemia

News trends on D-Glyceric acidemia

Commentary

Blogs on D-Glyceric acidemia

Definitions

Definitions of D-Glyceric acidemia

Patient Resources / Community

Patient resources on D-Glyceric acidemia

Discussion groups on D-Glyceric acidemia

Patient Handouts on D-Glyceric acidemia

Directions to Hospitals Treating D-Glyceric acidemia

Risk calculators and risk factors for D-Glyceric acidemia

Healthcare Provider Resources

Symptoms of D-Glyceric acidemia

Causes & Risk Factors for D-Glyceric acidemia

Diagnostic studies for D-Glyceric acidemia

Treatment of D-Glyceric acidemia

Continuing Medical Education (CME)

CME Programs on D-Glyceric acidemia

International

D-Glyceric acidemia en Espanol

D-Glyceric acidemia en Francais

Business

D-Glyceric acidemia in the Marketplace

Patents on D-Glyceric acidemia

Experimental / Informatics

List of terms related to D-Glyceric acidemia

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

D-Glyceric acidemia has an autosomal recessive pattern of inheritance.

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]

References

Template:WH Template:WS