NKH
MCID: GLY010
MIFTS: 56
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Glycine Encephalopathy (NKH)
Categories:
Eye diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Glycine Encephalopathy:
Characteristics:Orphanet epidemiological data:59
glycine encephalopathy
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: any age;
neonatal glycine encephalopathy
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;
infantile glycine encephalopathy
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
death in infancy common for patients with the classic neonatal form patients with atypical form have milder disease, with onset in the first months of life and increased survival HPO:32
glycine encephalopathy:
Mortality/Aging death in infancy Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases Eye diseases
ICD10:
34
External Ids:
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NIH Rare Diseases
:
53
Glycine encephalopathy is an inheritedmetabolic 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: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.
Infantile form: Symptoms start only after 6 months of age, as intellectual disability, abnormal movements, and behavioral problems
Late onset: Symptoms include tightness or stiffness of the legs or arms (spastic diplegia), and vision loss due to a damage of the eye nerve (optic atrophy).
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 (mutations) 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. Treatment may include sodium benzoate to reduce the levels of glycine, N-methyl D-aspartate (NMDA) receptor site antagonists, anti-seizure drugs and ketogenic diet. About half of the babies with the classic form, die within a few weeks of life and the survivors may have motor delay, very small head, seizures and stiffness. In the transient form symptoms may improve with time.
MalaCards based summary : Glycine Encephalopathy, also known as non-ketotic hyperglycinemia, is related to atypical glycine encephalopathy and glycine encephalopathy with normal serum glycine, and has symptoms including seizures, myoclonus and lethargy. An important gene associated with Glycine Encephalopathy is AMT (Aminomethyltransferase), and among its related pathways/superpathways are Glycine, serine and threonine metabolism and Viral mRNA Translation. The drugs Guaifenesin and Dextromethorphan have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and testes, and related phenotypes are seizures and recurrent singultus Disease Ontology : 12 An amino acid metabolic disorder that involves abnormally high levels of the amino acid glycine in bodily fluids and tissues. Genetics Home Reference : 25 Glycine encephalopathy, which is also known as nonketotic hyperglycinemia or NKH, is a genetic disorder characterized by abnormally high levels of a molecule called glycine. This molecule is an amino acid, which is a building block of proteins. Glycine also 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. UniProtKB/Swiss-Prot : 75 Non-ketotic hyperglycinemia: Autosomal recessive disease characterized by accumulation of a large amount of glycine in body fluid and by severe neurological symptoms. Wikipedia : 76 Glycine encephalopathy (also known as non-ketotic hyperglycinemia or NKH) is a rare autosomal recessive... more...
Description from OMIM:
605899
GeneReviews:
NBK1357
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:605899Human phenotypes related to Glycine Encephalopathy:59 32 (show all 27)
UMLS symptoms related to Glycine Encephalopathy:seizures, myoclonus, lethargy, restlessness GenomeRNAi Phenotypes related to Glycine Encephalopathy according to GeneCards Suite gene sharing:26
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Drugs for Glycine Encephalopathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 8)
Interventional clinical trials:
Cochrane evidence based reviews: hyperglycinemia, nonketotic |
MalaCards organs/tissues related to Glycine Encephalopathy:41
Brain,
Eye,
Testes,
Spinal Cord
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Articles related to Glycine Encephalopathy:(show top 50) (show all 62)
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UniProtKB/Swiss-Prot genetic disease variations for Glycine Encephalopathy:75 (show all 33)
ClinVar genetic disease variations for Glycine Encephalopathy:6 (show top 50) (show all 872)
Copy number variations for Glycine Encephalopathy from CNVD:7
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Search
GEO
for disease gene expression data for Glycine Encephalopathy.
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Pathways related to Glycine Encephalopathy according to KEGG:37
Pathways related to Glycine Encephalopathy according to GeneCards Suite gene sharing:
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Cellular components related to Glycine Encephalopathy according to GeneCards Suite gene sharing:
Biological processes related to Glycine Encephalopathy according to GeneCards Suite gene sharing:
Molecular functions related to Glycine Encephalopathy according to GeneCards Suite gene sharing:
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