"Hyperargininemia" 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.
A rare autosomal recessive disorder of the urea cycle. It is caused by a deficiency of the hepatic enzyme ARGINASE. Arginine is elevated in the blood and cerebrospinal fluid, and periodic HYPERAMMONEMIA may occur. Disease onset is usually in infancy or early childhood. Clinical manifestations include seizures, microcephaly, progressive mental impairment, hypotonia, ataxia, spastic diplegia, and quadriparesis. (From Hum Genet 1993 Mar;91(1):1-5; Menkes, Textbook of Child Neurology, 5th ed, p51)
| Descriptor ID |
D020162
|
| MeSH Number(s) |
C10.228.140.163.100.937.500 C16.320.565.100.940.500 C16.320.565.189.937.500 C18.452.132.100.937.437 C18.452.648.100.940.437 C18.452.648.189.937.437
|
| Concept/Terms |
Hyperargininemia- Hyperargininemia
- Hyperargininemias
- Deficiency Disease, Arginase
- Arginase Deficiency Disease
- Arginase Deficiency Diseases
- Deficiency Diseases, Arginase
- Argininemia
- ARG1 Deficiency
- ARG1 Deficiencies
- Deficiencies, ARG1
- Deficiency, ARG1
- Arginase Deficiency
- Arginase Deficiencies
- Deficiencies, Arginase
- Deficiency, Arginase
|
Below are MeSH descriptors whose meaning is more general than "Hyperargininemia".
- 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]
- Urea Cycle Disorders, Inborn [C10.228.140.163.100.937]
- Hyperargininemia [C10.228.140.163.100.937.500]
- 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]
- Urea Cycle Disorders, Inborn [C16.320.565.100.940]
- Hyperargininemia [C16.320.565.100.940.500]
- Brain Diseases, Metabolic, Inborn [C16.320.565.189]
- Urea Cycle Disorders, Inborn [C16.320.565.189.937]
- Hyperargininemia [C16.320.565.189.937.500]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Brain Diseases, Metabolic [C18.452.132]
- Brain Diseases, Metabolic, Inborn [C18.452.132.100]
- Urea Cycle Disorders, Inborn [C18.452.132.100.937]
- Hyperargininemia [C18.452.132.100.937.437]
- Metabolism, Inborn Errors [C18.452.648]
- Amino Acid Metabolism, Inborn Errors [C18.452.648.100]
- Urea Cycle Disorders, Inborn [C18.452.648.100.940]
- Hyperargininemia [C18.452.648.100.940.437]
- Brain Diseases, Metabolic, Inborn [C18.452.648.189]
- Urea Cycle Disorders, Inborn [C18.452.648.189.937]
- Hyperargininemia [C18.452.648.189.937.437]
Below are MeSH descriptors whose meaning is more specific than "Hyperargininemia".
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