Carbamoylphosphate synthetase 1 deficiency disease

Introduction: Carbamoylphosphate synthetase 1 deficiency disease

Description of Carbamoylphosphate synthetase 1 deficiency disease

Carbamoylphosphate synthetase 1 deficiency disease: A urea cycle disorder manifesting in infancy as lethargy, emesis, seizures, alterations of muscle tone, abnormal eye movements, and an elevation of serum ammonia. The disorder is caused by a reduction in the activity of hepatic mitochondrial CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA). (Menkes, Textbook of Child Neurology, 5th ed, pp50-1)
Source: Diseases Database

Carbamoylphosphate synthetase 1 deficiency disease: Related Topics

These medical condition or symptom topics may be relevant to medical information for Carbamoylphosphate synthetase 1 deficiency disease:

• Carbamoylphosphate synthetase 1 deficiency
• Carbamoylphosphate synthetase
• Deficiency disease
• Carbamoylphosphate
• Synthetase
• Deficiency
• Urea
• Cycle

External links related to: Carbamoylphosphate synthetase 1 deficiency disease

• OMIM - CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO
• GeneReviews: Urea Cycle Disorders Overview

Source: Diseases Database

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