| Descriptor English: | Hyperlysinemias | ||||||
| Descriptor Spanish: |
Hiperlisinemias
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| Descriptor Portuguese: | Hiperlisinemias | ||||||
| Descriptor French: | Hyperlysinémies | ||||||
| Entry term(s): |
Alpha Aminoadipic Semialdehyde Deficiency Disease Alpha-Aminoadipic Semialdehyde Deficiency Disease Deficiencies, L-Lysine:NAD-Oxido-Reductase Deficiencies, Lysine:Alpha-Ketoglutarate Reductase Deficiency Disease, Alpha Aminoadipic Semialdehyde Deficiency Disease, Alpha-Aminoadipic Semialdehyde Deficiency Disease, Lysine Alpha Ketoglutarate Reductase Deficiency Disease, Lysine Alpha-Ketoglutarate Reductase Deficiency Disease, Saccharopine Dehydrogenase Deficiency, L-Lysine:NAD-Oxido-Reductase Deficiency, Lysine:Alpha-Ketoglutarate Reductase Familial Hyperlysinemia Familial Hyperlysinemias Hyperammonemia, Hyperlysinuria With Hyperammonemias, Hyperlysinuria With Hyperlysinemia Hyperlysinemia, Familial Hyperlysinemia, Periodic Hyperlysinemias, Familial Hyperlysinemias, Periodic Hyperlysinuria With Hyperammonemia Hyperlysinuria With Hyperammonemias L Lysine:NAD Oxido Reductase Deficiency L-Lysine:NAD-Oxido-Reductase Deficiencies L-Lysine:NAD-Oxido-Reductase Deficiency Lysine Alpha Ketoglutarate Reductase Deficiency Disease Lysine Alpha-Ketoglutarate Reductase Deficiency Disease Lysine:Alpha Ketoglutarate Reductase Deficiency Lysine:Alpha-Ketoglutarate Reductase Deficiencies Lysine:Alpha-Ketoglutarate Reductase Deficiency Periodic Hyperlysinemia Periodic Hyperlysinemias Reductase Deficiencies, Lysine:Alpha-Ketoglutarate Reductase Deficiency, Lysine:Alpha-Ketoglutarate Saccharopine Dehydrogenase Deficiency Disease With Hyperammonemia, Hyperlysinuria With Hyperammonemias, Hyperlysinuria |
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| Tree number(s): |
C10.228.140.163.100.380 C16.320.565.100.544 C16.320.565.189.380 C18.452.132.100.380 C18.452.648.100.544 C18.452.648.189.380 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D020167 | ||||||
| Scope note: | 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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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Previous Indexing: |
Amino Acid Metabolism, Inborn Errors (1965-1999) Lysine/metabolism (1966-1999) |
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| Public MeSH Note: | 2000 |
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| History Note: | 2000 |
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| Related: |
Saccharopine Dehydrogenases
MeSH | ||||||
| DeCS ID: | 34233 | ||||||
| Unique ID: | D020167 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 2000/01/01 | ||||||
| Date of Entry: | 1999/11/03 | ||||||
| Revision Date: | 2013/07/08 |
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|
Hyperlysinemias
- Preferred
Hyperlysinemia, Periodic
- Narrower
Saccharopine Dehydrogenase Deficiency Disease
- Narrower
Alpha-Aminoadipic Semialdehyde Deficiency Disease
- Narrower
Lysine Alpha-Ketoglutarate Reductase Deficiency Disease
- Narrower
| Concept UI |
M0328333 |
| Scope note | 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) |
| Preferred term | Hyperlysinemias |
| Entry term(s) |
Deficiencies, L-Lysine:NAD-Oxido-Reductase Deficiencies, Lysine:Alpha-Ketoglutarate Reductase Deficiency, L-Lysine:NAD-Oxido-Reductase Deficiency, Lysine:Alpha-Ketoglutarate Reductase Familial Hyperlysinemia Familial Hyperlysinemias Hyperlysinemia Hyperlysinemia, Familial Hyperlysinemias, Familial L Lysine:NAD Oxido Reductase Deficiency L-Lysine:NAD-Oxido-Reductase Deficiencies L-Lysine:NAD-Oxido-Reductase Deficiency Lysine:Alpha Ketoglutarate Reductase Deficiency Lysine:Alpha-Ketoglutarate Reductase Deficiencies Lysine:Alpha-Ketoglutarate Reductase Deficiency Reductase Deficiencies, Lysine:Alpha-Ketoglutarate Reductase Deficiency, Lysine:Alpha-Ketoglutarate |
| Concept UI |
M0335294 |
| Preferred term | Hyperlysinemia, Periodic |
| Entry term(s) |
Hyperammonemia, Hyperlysinuria With Hyperammonemias, Hyperlysinuria With Hyperlysinemias, Periodic Hyperlysinuria With Hyperammonemia Hyperlysinuria With Hyperammonemias Periodic Hyperlysinemia Periodic Hyperlysinemias With Hyperammonemia, Hyperlysinuria With Hyperammonemias, Hyperlysinuria |
| Concept UI |
M0335293 |
| Preferred term | Saccharopine Dehydrogenase Deficiency Disease |
| Entry term(s) |
Deficiency Disease, Saccharopine Dehydrogenase |
| Concept UI |
M0335291 |
| Preferred term | Alpha-Aminoadipic Semialdehyde Deficiency Disease |
| Entry term(s) |
Alpha Aminoadipic Semialdehyde Deficiency Disease Deficiency Disease, Alpha Aminoadipic Semialdehyde Deficiency Disease, Alpha-Aminoadipic Semialdehyde |
| Concept UI |
M0335292 |
| Preferred term | Lysine Alpha-Ketoglutarate Reductase Deficiency Disease |
| Entry term(s) |
Deficiency Disease, Lysine Alpha Ketoglutarate Reductase Deficiency Disease, Lysine Alpha-Ketoglutarate Reductase Lysine Alpha Ketoglutarate Reductase Deficiency Disease |
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