hyperlysinemias

Preferred Label : hyperlysinemias;

MeSH definition : 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);

MeSH synonym : hyperlysinemias, familial; hyperlysinemia; familial hyperlysinemias; hyperlysinemia, familial; familial hyperlysinemia; Lysine:Alpha-Ketoglutarate reductase deficiency; L-Lysine:Nad-Oxido-Reductase deficiency; deficiencies, L-Lysine:NAD-Oxido-Reductase; deficiency, L-Lysine:NAD-Oxido-Reductase; L Lysine:NAD oxido reductase deficiency; L-Lysine:NAD-Oxido-Reductase deficiencies; deficiencies, Lysine:Alpha-Ketoglutarate reductase; deficiency, Lysine:Alpha-Ketoglutarate reductase; Lysine:Alpha ketoglutarate reductase deficiency; Lysine:Alpha-Ketoglutarate reductase deficiencies; reductase deficiencies, Lysine:Alpha-Ketoglutarate; reductase deficiency, Lysine:Alpha-Ketoglutarate;

MeSH hyponym : Alpha-Aminoadipic semialdehyde deficiency disease; lysine Alpha-Ketoglutarate reductase deficiency disease; saccharopine dehydrogenase deficiency disease; hyperlysinemia, periodic; Hyperlysinemias, Periodic; Periodic Hyperlysinemia; Periodic Hyperlysinemias; Hyperlysinuria With Hyperammonemia; Hyperammonemia, Hyperlysinuria With; Hyperammonemias, Hyperlysinuria With; Hyperlysinuria With Hyperammonemias; With Hyperammonemia, Hyperlysinuria; With Hyperammonemias, Hyperlysinuria; Deficiency Disease, Saccharopine Dehydrogenase; Alpha Aminoadipic Semialdehyde Deficiency Disease; Deficiency Disease, Alpha-Aminoadipic Semialdehyde; Deficiency Disease, Alpha Aminoadipic Semialdehyde; Lysine Alpha Ketoglutarate Reductase Deficiency Disease; Deficiency Disease, Lysine Alpha-Ketoglutarate Reductase; Deficiency Disease, Lysine Alpha Ketoglutarate Reductase;

Details

Origin ID

D020167;

UMLS CUI

C0268553;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- 2-aminoadipic 2-oxoadipic aciduria [ORDO Disease]
- Disorders of lysine and hydroxylysine metabolism [ICD-10 Sub-category (who)]
- Disorders of lysine and hydroxylysine metabolism [ICD-10 Sub-category]
- Hyperlysinaemia [MedDRA Preferred Term]
- Hyperlysinaemia type 2 [ICD-11 More detail]
- Hyperlysinemia [MedDRA LLT]
- Hyperlysinuria with hyperammonemia [OMIM Phenotype]
- Periodic hyperlysinemia (disorder) [SNOMED CT concept]
- Periodic hyperlysinemia with hyperammonemia (disorder) [SNOMED CT concept]
- Saccharopinuria [ORDO Disease]
- Saccharopinuria [OMIM Phenotype]
- Saccharopinuria (disorder) [SNOMED CT concept]
- periodic hyperlysinemia [SNOMED Notion]
- saccharopinuria [SNOMED Notion]
Currated CISMeF NLP mapping
- Hyperlysinaemia [ICD-11 More detail]
- Hyperlysinemia [ORDO Disease]
- Hyperlysinemia [NCIt concept]
- Hyperlysinemia [PASCAL descriptor]
- Hyperlysinemia [HPO term]
- Hyperlysinemia (disorder) [SNOMED CT concept]
- Hyperlysinemia, type I [OMIM Phenotype]
- hyperlysinaemia [Disease (Nov.)]
- hyperlysinemia [DO Concept]
- hyperlysinemia, nos [SNOMED Notion]
DO Cross reference
- hyperlysinemia [DO Concept]
HPO term
- Hyperlysinemia [HPO term]
Has phenotype(s) (HPO)
- Mild anemia [HPO term]
Indexing information
- AASS protein, human [MeSH Supplementary Concept]
ORDO relation(s)
- Hyperlysinemia [ORDO Disease]
Record concept(s)
- Alpha-Aminoadipic semialdehyde deficiency disease [MeSH concept]
- hyperlysinemia, periodic [MeSH concept]
- hyperlysinemias [MeSH concept]
- lysine Alpha-Ketoglutarate reductase deficiency disease [MeSH concept]
- saccharopine dehydrogenase deficiency disease [MeSH concept]
Related MeSH Supplementary Concept(s)
- hyperlysinemia due to defect in lysine transport into mitochondria [MeSH Supplementary Concept]
- lysine intolerance [MeSH Supplementary Concept]
- saccharopinuria [MeSH Supplementary Concept]
See also
- saccharopine dehydrogenases [MeSH Descriptor]
See also (suggested by CISMeF)
- lysine [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hyperlysinaemia [MedDRA Preferred Term]
- Hyperlysinemia [HPO term]
- Hyperlysinemia [NCIt concept]
- Hyperlysinemia [MedDRA LLT]
- Hyperlysinemia (disorder) [SNOMED CT concept]
- hyperlysinemia [DO Concept]
- hyperlysinemia, nos [SNOMED Notion]

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