DISEASES

Disease-gene associations mined from literature

Human genes for argininosuccinic aciduria

Argininosuccinic aciduria [DOID:14755]

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.

Synonyms:  argininosuccinic aciduria,  DOID:14755,  Argininosuccinate lyase deficiency (disorder),  argininosuccinic acidemia,  arginosuccinase deficiency ...

Linkouts:  OMIM