Argininosuccinic aciduria

Argininosuccinic aciduria
Overview
A rare inherited disorder of the urea cycle characterized by the lack of an enzyme (argininosuccinate lyase) which is needed to remove nitrogen from the body so a lack of the enzyme leads to a build-up of ...

Argininosuccinic Aciduria
National Organization for Rare Disorders, Inc.
Synonyms ...

What is argininosuccinic aciduria?
Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high.

Argininosuccinic aciduria usually becomes evident in the first few days of life. An infant with argininosuccinic aciduria may be lacking in energy (lethargic) or unwilling to eat, and have poorly controlled breathing rate or body temperature.

Argininosuccinic aciduria
Arginase deficiency
Carbamyl phosphate synthetase (CPS) deficiency
Citrullinemia
N-acetyl glutamate synthetase deficiency (NAGS)
Ornithine transcarbamylase deficiency (OTC) ...

Homocystinuria, Hypermethioninemia) - Urea cycle disorder (N-Acetylglutamate synthase deficiency, Carbamoyl phosphate synthetase I deficiency, Ornithine transcarbamylase deficiency/translocase deficiency, Citrullinemia, Argininosuccinic aciduria, ...

Argininosuccinic Aciduria see Urea Cycle disorders
Arm or Hand Deficiencies see Upper Limb Abnormalities
Arnold Chiari Malformation see Syringomyelia
Arterial Calcification of Infancy see Generalised Arterial Calcification of Infancy ...

Argininosuccinic Aciduria
arginosuccinate synthetase deficiency
arginosuccinic acid synthetase deficiency
Arginyl-tRNA Synthetase 2 (RARS2
Argonz-Del Castillo Syndrome
Arm Injuries
Arm Problems, Noninjury
Armenian Syndrome ...

urea cycle disorders (UCDs) include carbamoyl phosphate synthase (CPS) deficiency, ornithine transcarbamylase (OTC) deficiency, argininosuccinate synthetase deficiency (citrullinemia), argininosuccinate lyase deficiency (argininosuccinic aciduria), ...

Argininosuccinic Aciduria Causes, Symptoms And Treatment And Related Disorders
Argininosuccinic aciduria is a rare inherited disorder characterized by deficiency or lack of the enzyme argininosuccinate lyase (ASL).

Argininosuccinic aciduria ... fragile hair
Arthrogryposis IUGR thoracic dystrophy ... absent scalp hair, sparse scalp hair
Atrichia -- mental and growth delay ... absent scalp hair
Australian Sea Lion poisoning ... hair loss ...

See also: Deficiency, Symptom, Urea Cycle, Arginase deficiency, Citrullinemia