Arginosuccinate synthetase deficiency

Introduction: Arginosuccinate synthetase deficiency

Description of Arginosuccinate synthetase deficiency

Arginosuccinate synthetase deficiency: A group of diseases related to a deficiency of the enzyme ARGININOSUCCINATE SYNTHASE which causes an elevation of serum levels of CITRULLINE. In neonates, clinical manifestations include lethargy, hypotonia, and SEIZURES. Milder forms also occur. Childhood and adult forms may present with recurrent episodes of intermittent weakness, lethargy, ATAXIA, behavioral changes, and DYSARTHRIA. (From Menkes, Textbook of Child Neurology, 5th ed, p49)
Source: Diseases Database

Arginosuccinate synthetase deficiency: autosomal recessive aminoacidopathy characterized by marked elevation in plasma and urine levels of citrulline, with hyperammonemia and sometimes secondary oroticaciduria; clinical findings include mental retardation and neurologic abnormalities.
Source: CRISP

Arginosuccinate synthetase deficiency: Related Topics

These medical condition or symptom topics may be relevant to medical information for Arginosuccinate synthetase deficiency:

• Synthetase
• Deficiency

Terms associated with Arginosuccinate synthetase deficiency:

Terms Similar to Arginosuccinate synthetase deficiency:

• Citrullinaemia type 1
• Citrullinemia type 1
• Citrullinuria type 1

Source: Diseases Database

Broader terms for Arginosuccinate synthetase deficiency

• enzyme deficiency
• inborn urea cycle disorder

Source - CRISP

The term Arginosuccinate synthetase deficiency can be used for:

• citrullinemia
• citrullinuria

Source: CRISP

Other terms that may be related to Arginosuccinate synthetase deficiency:

• autosomal recessive trait

Source: CRISP

The description of Arginosuccinate synthetase deficiency may also be used for the following terms:

• ASS deficiency

Source: CRISP

External links related to: Arginosuccinate synthetase deficiency

• Citrullinemia - Genetics Home Reference
• GeneReviews: Citrullinemia Type I
• OMIM - CITRULLINEMIA, CLASSIC
• eMedicine - Citrullinemia : Article by Karl S Roth, MD
• GeneReviews: Urea Cycle Disorders Overview

Source: Diseases Database

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Medical dictionaries:

• Medical dictionary,
• Medical Acronymns/Abbreviations

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