Argininosuccinic aciduria, also called argininosuccinic acidemia, is an inherited disorder that causes the accumulation of argininosuccinic acid (also known as "ASA") in the blood and urine. Some patients may also have an elevation of ammonia, a toxic chemical, which can affect the nervous system. Argininosuccinic aciduria may become evident in the first few days of life because of high blood ammonia, or later in life presenting with "sparse" or "brittle" hair, developmental delay, and tremors.

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  • 207900
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  • Argininosuccinic aciduria, also called argininosuccinic acidemia, is an inherited disorder that causes the accumulation of argininosuccinic acid (also known as "ASA") in the blood and urine. Some patients may also have an elevation of ammonia, a toxic chemical, which can affect the nervous system. Argininosuccinic aciduria may become evident in the first few days of life because of high blood ammonia, or later in life presenting with "sparse" or "brittle" hair, developmental delay, and tremors. An infant with argininosuccinic aciduria may seem lethargic or be unwilling to eat, have poorly-controlled breathing rate or body temperature, experience seizures or unusual body movements, or go into a coma. Complications from argininosuccinic aciduria may include developmental delay and mental retardation. Progressive liver damage, skin lesions, and brittle hair may also be seen. Immediate treatment and lifelong management (following a strict diet and using appropriate supplements) may prevent many of these complications. Occasionally, an individual may inherit a mild form of the disorder in which ammonia accumulates in the bloodstream only during periods of illness or other stress.
  • 精氨基琥珀酸尿症是一種遺傳性疾病，使氨積聚在血液內。由於氨是有毒的，尤其對神經系統造成破壞，精氨基琥珀酸尿症在出生數天便會發現。 患有精氨基琥珀酸尿症的初生嬰兒會昏昏欲睡及食慾不振，呼吸頻率及溫度調節會較差，且會癲癇或不正常的身體活動，甚至會昏迷。較嚴重的會有發育不良及智能障礙，逐步對肝臟的損害、皮膚損害、頭髮變得易斷亦會出現。即時的治療及正衡的生活（嚴謹的飲食及藥物控制）可以阻止上述的問題。 間中地，因疾病或壓力可以同樣導致氨積聚在血液內，出現較輕的病徵。
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  • Argininosuccinic aciduria, also called argininosuccinic acidemia, is an inherited disorder that causes the accumulation of argininosuccinic acid (also known as "ASA") in the blood and urine. Some patients may also have an elevation of ammonia, a toxic chemical, which can affect the nervous system. Argininosuccinic aciduria may become evident in the first few days of life because of high blood ammonia, or later in life presenting with "sparse" or "brittle" hair, developmental delay, and tremors.
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  • Argininosuccinic aciduria
  • 精氨基琥珀酸尿症
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