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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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| Hyperlysinemias | Legal notice |
Other terms
Hyperlysinemia,Hyperlysinemia, Familial,Familial Hyperlysinemia,Familial Hyperlysinemias,Hyperlysinemias, Familial,Saccharopine Dehydrogenase Deficiency Disease,Deficiency Disease, Saccharopine Dehydrogenase,Lysine Alpha-Ketoglutarate Reductase Deficiency Disease,Lysine Alpha Ketoglutarate Reductase Deficiency Disease,Deficiency Disease, Lysine Alpha-Ketoglutarate Reductase,Deficiency Disease, Lysine Alpha Ketoglutarate Reductase,Alpha-Aminoadipic Semialdehyde Deficiency Disease,Alpha Aminoadipic Semialdehyde Deficiency Disease,Deficiency Disease, Alpha-Aminoadipic Semialdehyde,Deficiency Disease, Alpha Aminoadipic Semialdehyde,Hyperlysinemia, Periodic,Hyperlysinemias, Periodic,Periodic Hyperlysinemia,Periodic Hyperlysinemias
Description
Hyperlysinemias: A group of inherited metabolic disorders which have in common elevations of serum LYSINE levels. Enzyme deficiencies of alpha-aminoadipic semialdehyde dehydrogenase and the SACCHAROPINE DEHYDROGENASES have been associated with hyperlysinemia. Clinical manifestations include mental retardation, recurrent emesis, hypotonia, lethargy, diarrhea, and developmental delay. (From Menkes, Textbook of Child Neurology, 5th ed, p56)
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- Amino Acid Metabolism, Inborn Errors
- Brain Diseases, Metabolic, Inborn
- Brain Diseases, Metabolic, Inborn
- Amino Acid Metabolism, Inborn Errors
- Brain Diseases, Metabolic, Inborn
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