Hyperlysinemias

"Hyperlysinemias" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

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)

Descriptor ID

D020167

MeSH 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

Concept/Terms

Hyperlysinemias

Saccharopine Dehydrogenase Deficiency Disease

Lysine Alpha-Ketoglutarate Reductase Deficiency Disease

Alpha-Aminoadipic Semialdehyde Deficiency Disease

Hyperlysinemia, Periodic

Below are MeSH descriptors whose meaning is more general than "Hyperlysinemias".

Diseases [C]
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]
Hyperlysinemias [C10.228.140.163.100.380]
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]
Hyperlysinemias [C16.320.565.100.544]
Brain Diseases, Metabolic, Inborn [C16.320.565.189]
Hyperlysinemias [C16.320.565.189.380]
Nutritional and Metabolic Diseases [C18]
Metabolic Diseases [C18.452]
Brain Diseases, Metabolic [C18.452.132]
Brain Diseases, Metabolic, Inborn [C18.452.132.100]
Hyperlysinemias [C18.452.132.100.380]
Metabolism, Inborn Errors [C18.452.648]
Amino Acid Metabolism, Inborn Errors [C18.452.648.100]
Hyperlysinemias [C18.452.648.100.544]
Brain Diseases, Metabolic, Inborn [C18.452.648.189]
Hyperlysinemias [C18.452.648.189.380]

Below are MeSH descriptors whose meaning is related to "Hyperlysinemias".

Below are MeSH descriptors whose meaning is more specific than "Hyperlysinemias".

publications

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