Citrullinemia
Citrullinemia Citrullinemia [[Image:{{{Image}}}|190px|center|]] {{{Caption}}} ICD-10 ... MedlinePlus {{{MedlinePlus}}} eMedicine {{{eMedicineSubj}}}/{{{eMedicineTopic}}} DiseasesDB {{{DiseasesDB}}} Citrullinemia is an inherited disorder that causes ammonia ... accumulate in the blood. Two forms of citrullinemia have been described; they have different signs ... are caused by mutations in different genes. Citrullinemia belongs to a class of genetic ...
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ASS (gene)
... base pair 130,406,214. Related conditions Citrullinemia: At least 50 mutations that cause type I citrullinemia have been identified in the ASS gene ... other signs and symptoms of type I citrullinemia . See also Argininosuccinate synthetase Chromosome 9 Citrullinemia Urea cycle References Gao HZ, Kobayashi K ... and genotype-phenotype correlation in 38 classical citrullinemia patients. Hum Mutat 22 (1): 24- ...
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Argininosuccinate synthetase
... is located on chromosome 9. Related conditions Citrullinemia: At least 50 mutations that cause type I citrullinemia have been identified in the ASS gene ... other signs and symptoms of type I citrullinemia . See also Citrullinemia Urea cycle
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Urea cycle disorder
... OTC - Ornithine transcarbamylase AS - Argininosuccinic acid synthetase (Citrullinemia) AL/ASA - Argininosuccinase acid lyase (Argininosuccinic aciduria ... screen all newborns for argininosuccinate synthetase deficiency (citrullinemia), argininosuccinate lyase, and arginase deficiency. Research into ...
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List of ICD-9 codes 240-279: Endocrine, nutritional and metabolic diseases, and immunity disorders
... 270.6) Disorders of urea cycle metabolism Citrullinemia Hyperammonemia (271) Disorders of carbohydrate transport and ...
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Chromosome 9 (human)
... ALAD deficiency porphyria amyotrophic lateral sclerosis (ALS) citrullinemia Ehlers-Danlos syndrome Ehlers-Danlos syndrome, classical ...
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Chromosome 7 (human)
... disease Charcot-Marie-Tooth disease, type 2 citrullinemia congenital bilateral absence of vas deferens cystic ...
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Category:Inborn errors of metabolism
... acylcarnitine translocase deficiency Cholesteryl ester storage disease Citrullinemia Cystinosis F Farber disease G Gaucher's ...
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Category:Genetic disorders
... Charcot-Marie-Tooth disease Chronic granulomatous disease Citrullinemia Cockayne syndrome Cockayne's syndrome Coffin-Lowry ...
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Newborn screening
... Argininosuccinic aciduria (ASA) < 1 in 100,000 @ Citrullinemia (CIT) < 1 in 100,000 @ Phenylketonuria (PKU ...
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