MeSH Browser

MeSH Heading: Hyperlysinemias
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
Unique ID: D020167
RDF Unique Identifier: http://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)
Entry Term(s): Alpha-Aminoadipic Semialdehyde Deficiency Disease; 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 Disease; Lysine:Alpha-Ketoglutarate Reductase Deficiency; Saccharopine Dehydrogenase Deficiency Disease
Previous Indexing: Amino Acid Metabolism, Inborn Errors (1965-1999); Lysine/metabolism (1966-1999)
See Also: Saccharopine Dehydrogenases
Public MeSH Note: 2000
History Note: 2000
Date Established: 2000/01/01
Date of Entry: 1999/11/03
Revision Date: 2013/07/08

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
  - Brain Diseases [C10.228.140]
    - Brain Diseases, Metabolic [C10.228.140.163]
      - Brain Diseases, Metabolic, Inborn [C10.228.140.163.100]
        
        Adrenoleukodystrophy [C10.228.140.163.100.084]
        
        Cerebral Amyloid Angiopathy, Familial [C10.228.140.163.100.168]
        
        Galactosemias [C10.228.140.163.100.320]
        
        Hartnup Disease [C10.228.140.163.100.355]
        
        Hepatolenticular Degeneration [C10.228.140.163.100.360]
        
        Hereditary Central Nervous System Demyelinating Diseases [C10.228.140.163.100.362]
        
        Homocystinuria [C10.228.140.163.100.365]
        
        Hyperglycinemia, Nonketotic [C10.228.140.163.100.375]
        
        Hyperlysinemias [C10.228.140.163.100.380]
        
        Leigh Disease [C10.228.140.163.100.412]
        
        Lesch-Nyhan Syndrome [C10.228.140.163.100.425]
        
        Lysosomal Storage Diseases, Nervous System [C10.228.140.163.100.435]
        
        Maple Syrup Urine Disease [C10.228.140.163.100.520]
        
        MELAS Syndrome [C10.228.140.163.100.535]
        
        Menkes Kinky Hair Syndrome [C10.228.140.163.100.540]
        
        MERRF Syndrome [C10.228.140.163.100.545]
        
        Mevalonate Kinase Deficiency [C10.228.140.163.100.593]
        
        Oculocerebrorenal Syndrome [C10.228.140.163.100.640]
        
        Phenylketonurias [C10.228.140.163.100.687]
        
        Pyruvate Carboxylase Deficiency Disease [C10.228.140.163.100.725]
        
        Pyruvate Dehydrogenase Complex Deficiency Disease [C10.228.140.163.100.750]
        
        Refsum Disease [C10.228.140.163.100.813]
        
        Refsum Disease, Infantile [C10.228.140.163.100.844]
        
        Tyrosinemias [C10.228.140.163.100.875]
        
        Urea Cycle Disorders, Inborn [C10.228.140.163.100.937]
        
        Zellweger Syndrome [C10.228.140.163.100.968]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Metabolism, Inborn Errors [C16.320.565]
    - Amino Acid Metabolism, Inborn Errors [C16.320.565.100]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Metabolism, Inborn Errors [C16.320.565]
    - Brain Diseases, Metabolic, Inborn [C16.320.565.189]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Brain Diseases, Metabolic [C18.452.132]
    - Brain Diseases, Metabolic, Inborn [C18.452.132.100]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Metabolism, Inborn Errors [C18.452.648]
    - Amino Acid Metabolism, Inborn Errors [C18.452.648.100]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Metabolism, Inborn Errors [C18.452.648]
    - Brain Diseases, Metabolic, Inborn [C18.452.648.189]

Hyperlysinemias Preferred

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)
Terms: Hyperlysinemias Preferred Term
Term UI T358333
Date10/12/1999
LexicalTag NON
ThesaurusID NLM (2000); Familial Hyperlysinemia
Term UI T841693
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014); Hyperlysinemia
Term UI T812237
Date11/15/2011
LexicalTag NON
ThesaurusID; Hyperlysinemia, Familial
Term UI T368504
Date10/12/1999
LexicalTag NON
ThesaurusID NLM (2000); L-Lysine:NAD-Oxido-Reductase Deficiency
Term UI T839570
Date04/01/2013
LexicalTag ABX
ThesaurusID OMIM (2013); Lysine:Alpha-Ketoglutarate Reductase Deficiency
Term UI T812235
Date11/15/2011
LexicalTag NON
ThesaurusID OMIM (2013)

Alpha-Aminoadipic Semialdehyde Deficiency Disease Narrower

Lysine Alpha-Ketoglutarate Reductase Deficiency Disease Narrower

Saccharopine Dehydrogenase Deficiency Disease Narrower

Hyperlysinemia, Periodic Narrower

Hyperlysinemias MeSH Descriptor Data 2025