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DeCS
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Descriptor English:
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Hyperlysinemias
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Descriptor Spanish:
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Hiperlisinemias
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Descriptor Portuguese:
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Hiperlisinemias
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Synonyms English:
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Deficiency Disease, Alpha-Aminoadipic Semialdehyde
Deficiency Disease, Lysine Alpha-Ketoglutarate Reductase
Deficiency Disease, Saccharopine Dehydrogenase
Familial Hyperlysinemia
Hyperlysinemia
Hyperlysinemia, Familial
Hyperlysinemia, Periodic
Hyperlysinuria With Hyperammonemia
L-Lysine:NAD-Oxido-Reductase Deficiency
Lysine:Alpha-Ketoglutarate Reductase Deficiency
Alpha Aminoadipic Semialdehyde Deficiency Disease
Deficiencies, L-Lysine:NAD-Oxido-Reductase
Deficiencies, Lysine:Alpha-Ketoglutarate Reductase
Deficiency Disease, Alpha Aminoadipic Semialdehyde
Deficiency Disease, Lysine Alpha Ketoglutarate Reductase
Deficiency, L-Lysine:NAD-Oxido-Reductase
Deficiency, Lysine:Alpha-Ketoglutarate Reductase
Familial Hyperlysinemias
Hyperammonemia, Hyperlysinuria With
Hyperammonemias, Hyperlysinuria With
Hyperlysinemias, Familial
Hyperlysinemias, Periodic
Hyperlysinuria With Hyperammonemias
L Lysine:NAD Oxido Reductase Deficiency
L-Lysine:NAD-Oxido-Reductase Deficiencies
Lysine Alpha Ketoglutarate Reductase Deficiency Disease
Lysine:Alpha Ketoglutarate Reductase Deficiency
Lysine:Alpha-Ketoglutarate Reductase Deficiencies
Periodic Hyperlysinemia
Periodic Hyperlysinemias
Reductase Deficiencies, Lysine:Alpha-Ketoglutarate
Reductase Deficiency, Lysine:Alpha-Ketoglutarate
With Hyperammonemia, Hyperlysinuria
With Hyperammonemias, Hyperlysinuria
Alpha-Aminoadipic Semialdehyde Deficiency Disease
Lysine Alpha-Ketoglutarate Reductase Deficiency Disease
Saccharopine Dehydrogenase Deficiency Disease
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Tree Number:
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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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Definition English:
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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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See Related English:
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Saccharopine Dehydrogenases
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History Note English:
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2000
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Allowable Qualifiers English:
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Record Number:
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34233
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Unique Identifier:
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D020167
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Occurrence in VHL:
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Similar:
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DeCS CID-10 LILACS
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