loading...| Preferred Name |
N-acetylglutamate synthase deficiency |
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| Synonyms |
NAGSD |
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| Definitions |
(NAGSD) - Rare autosomal recessively inherited metabolic disorder leading to severe neonatal or late-onset hyperammonemia without increased excretion of orotic acid. Clinical symptoms are somnolence, tachypnea, feeding difficulties, a severe neurologic presentation characterized by uncontrollable movements, developmental delay, visual impairment, failure to thrive and hyperammonemia precipitated by the introduction of high-protein diet or febrile illness. |
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| ID |
http://identifiers.org/omim/237310 |
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| altLabel |
NAGSD |
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| definition |
(NAGSD) - Rare autosomal recessively inherited metabolic disorder leading to severe neonatal or late-onset hyperammonemia without increased excretion of orotic acid. Clinical symptoms are somnolence, tachypnea, feeding difficulties, a severe neurologic presentation characterized by uncontrollable movements, developmental delay, visual impairment, failure to thrive and hyperammonemia precipitated by the introduction of high-protein diet or febrile illness. |
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| id |
OMIM:237310 |
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| notation |
OMIM:237310 |
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| prefLabel |
N-acetylglutamate synthase deficiency |
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| subClassOf |