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DeCS
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Descriptor English:
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Citrullinemia
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Descriptor Spanish:
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Citrulinemia
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Descriptor Portuguese:
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Citrulinemia
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Synonyms English:
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Argininosuccinate Synthase Deficiency Disease
Argininosuccinate Synthetase Deficiency
Argininosuccinic Acid Synthetase Deficiency
ASS Deficiency
Citrullinemia 1
Citrullinemia Type 1
Citrullinemia, Classic
Deficiency Disease, Argininosuccinate Synthase
Deficiency Disease, Argininosuccinic Acid Synthase
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Tree Number:
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C10.228.140.163.100.937.374
C16.320.565.100.940.374
C16.320.565.189.937.374
C18.452.132.100.937.374
C18.452.648.100.940.374
C18.452.648.189.937.374
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Definition English:
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A group of diseases related to a deficiency of the enzyme ARGININOSUCCINATE SYNTHASE which causes an elevation of serum levels of CITRULLINE. In neonates, clinical manifestations include lethargy, hypotonia, and SEIZURES. Milder forms also occur. Childhood and adult forms may present with recurrent episodes of intermittent weakness, lethargy, ATAXIA, behavioral changes, and DYSARTHRIA. (From Menkes, Textbook of Child Neurology, 5th ed, p49) |
See Related English:
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Argininosuccinate Synthase
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History Note English:
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2000
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Allowable Qualifiers English:
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Record Number:
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34230
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Unique Identifier:
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D020159
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Occurrence in VHL:
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Similar:
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DeCS CID-10 SciELO LILACS LIS
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