Definitions for argininosuccinic aciduria
argini·nosuc·cinic aciduri·a

WikipediaRate this definition:0.0 / 0 votes

1. Argininosuccinic aciduria

   Argininosuccinic aciduria 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.

WikidataRate this definition:0.0 / 0 votes

1. Argininosuccinic aciduria

   Argininosuccinic aciduria, also called argininosuccinic acidemia, is an inherited disorder that causes the accumulation of argininosuccinic acid 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 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.

U.S. National Library of MedicineRate this definition:0.0 / 0 votes

1. Argininosuccinic Aciduria

   Rare autosomal recessive disorder of the urea cycle which leads to the accumulation of argininosuccinic acid in body fluids and severe HYPERAMMONEMIA. Clinical features of the neonatal onset of the disorder include poor feeding, vomiting, lethargy, seizures, tachypnea, coma, and death. Later onset results in milder set of clinical features including vomiting, failure to thrive, irritability, behavioral problems, or psychomotor retardation. Mutations in the ARGININOSUCCINATE LYASE gene cause the disorder.

How to pronounce argininosuccinic aciduria?

1. Alex

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   David

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   Mark

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   Daniel

   British

   Libby

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   Mia

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   Karen

   Australian

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   Australian

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How to say argininosuccinic aciduria in sign language?

Numerology

1. Chaldean Numerology

   The numerical value of argininosuccinic aciduria in Chaldean Numerology is: 6

2. Pythagorean Numerology

   The numerical value of argininosuccinic aciduria in Pythagorean Numerology is: 9

References

1. ^ Wikipedia
   https://en.wikipedia.org/wiki/Argininosuccinic_Aciduria
2. ^ Wikidata
   https://www.wikidata.org/w/index.php?search=argininosuccinic aciduria