Citrullinemia type I
Citrullinemia type I (CTLN1), also known as arginosuccinate synthetase deficiency, is a rare disease caused by a deficiency in argininosuccinate synthetase, an enzyme involved in excreting excess nitrogen from the body. There are mild and severe forms of the disease, which is one of the urea cycle disorders.
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Citrullinemia type I
Citrullinemia type I (CTLN1), also known as arginosuccinate synthetase deficiency, is a rare disease caused by a deficiency in argininosuccinate synthetase, an enzyme involved in excreting excess nitrogen from the body. There are mild and severe forms of the disease, which is one of the urea cycle disorders.
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Citrullinemia type I (CTLN1), ...... e of the urea cycle disorders.
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ICD10
OMIM id
ORPHA
Wikipage page ID
48,447,268
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1,000,515,359
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Citrullinemia type I is autosomal recessive
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ICD
E72.2
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name
Citrullinemia type I
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OMIM
Orphanet
synonyms
Argininosuccinate synthase def ...... cinic acid synthase deficiency
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hypernym
comment
Citrullinemia type I (CTLN1), ...... e of the urea cycle disorders.
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label
Citrullinemia type I
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isPrimaryTopicOf
name
Citrullinemia type I
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