| Descriptor English: | Hyperargininemia | ||||||
| Descriptor Spanish: |
Hiperargininemia
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| Descriptor Portuguese: | Hiperargininemia | ||||||
| Descriptor French: | Hyperargininémie | ||||||
| Entry term(s): |
ARG1 Deficiencies ARG1 Deficiency Arginase Deficiencies Arginase Deficiency Arginase Deficiency Disease Arginase Deficiency Diseases Argininemia Deficiencies, ARG1 Deficiencies, Arginase Deficiency Disease, Arginase Deficiency Diseases, Arginase Deficiency, ARG1 Deficiency, Arginase Hyperargininemias |
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| Tree 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 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D020162 | ||||||
| Scope note: | 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) |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Previous Indexing: |
Amino Acid Metabolism, Inborn Errors (1966-1999) |
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| Public MeSH Note: | 2000 |
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| History Note: | 2000 |
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| Related: |
Arginase
MeSH | ||||||
| DeCS ID: | 34231 | ||||||
| Unique ID: | D020162 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 2000/01/01 | ||||||
| Date of Entry: | 1999/11/03 | ||||||
| Revision Date: | 2013/07/08 |
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Hyperargininemia
- Preferred
| Concept UI |
M0328331 |
| Scope note | 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) |
| Preferred term | Hyperargininemia |
| Entry term(s) |
ARG1 Deficiencies ARG1 Deficiency Arginase Deficiencies Arginase Deficiency Arginase Deficiency Disease Arginase Deficiency Diseases Argininemia Deficiencies, ARG1 Deficiencies, Arginase Deficiency Disease, Arginase Deficiency Diseases, Arginase Deficiency, ARG1 Deficiency, Arginase Hyperargininemias |
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