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Illness finder is a diagnostic medicine tool for educational purpose that looks up your patients' health conditions or symptoms and diagnosis and find diseases or illnesses based on chosen gender, age, risk factors, illness, signs, symptoms and prevalence. Illnessfinder is inspired by Evidence based medicine (EMB) and healthcare that aims to apply the best (most reliable) knowledge that is available at decision time. Illnessfinder aims to free up time for the therapeutic dialogue and ensure quality at the evidence based practice, uniting proven medical findings and clinical evidence with systematised data technology.
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| Hyperglycinemia, Nonketotic | Legal notice |
Other terms
Hyperglycinemias, Nonketotic,Nonketotic Hyperglycinemias,Nonketotic Hyperglycinemia,Hyperglycinemia, Nonketotic, Type II,Type II Nonketotic Hyperglycinemia,Nonketotic Hyperglycinemia, Type II,Hyperglycinemia, Nonketotic, Type III,Type III Nonketotic Hyperglycinemia,Nonketotic Hyperglycinemia, Type III,Hyperglycinemia, Nonketotic, Type I,Nonketotic Hyperglycinemia, Type I,Type I Nonketotic Hyperglycinemia
Description
Hyperglycinemia, Nonketotic: An autosomal recessive metabolic disorder caused by deficiencies in the mitochondrial GLYCINE cleavage system; an enzyme system with four components: P-, T-, H-, and L-proteins. Deficiency of the P-protein is the most prevalent form. Neonatal and juvenile presentations have been reported. Neonatal onset is more common and may be fatal. Clinical features include SEIZURES; hypotonia; APNEA; and COMA. When the illness presents in childhood there tends to be an associated progressive DEMENTIA accompanied by extrapyramidal signs. (Menkes, Textbook of Child Neurology, 5th ed, p46; Jpn J Hum Genet 1997 Mar;42(1):13-22)
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- Brain Diseases, Metabolic, Inborn
- Amino Acid Metabolism, Inborn Errors
- Brain Diseases, Metabolic, Inborn
- Amino Acid Metabolism, Inborn Errors
- Brain Diseases, Metabolic, Inborn
Legal notice
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The version of the data is 2010 MeSH. Last reviewed April 26, 2010. No modification has been made in the content of the file.
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