Related Content

• Conditions (21): Genetic and Rare Conditions, Menkes Kinky Hair Syndrome, Fructose Intolerance, and 18 others Genetic and Rare Conditions, Menkes Kinky Hair Syndrome, Fructose Intolerance, Sjogren's Syndrome, Chronic Fatigue Syndrome, Marfan syndrome, Fragile X Syndrome, Cri-du-Chat Syndrome, Behcet's Syndrome, Angelman syndrome, DiGeorge Syndrome, Pseudohypoparathyroidism, Ehlers-Danlos syndrome, Short Bowel Syndrome, Williams Syndrome, Enzyme Deficiency, Wernicke-Korsakoff Syndrome, HIV, Irritable Bowel Syndrome, MELAS Syndrome, Nephrotic syndrome [hide]
• Groups (3): Menkes Kinky Hair Syndrome, Fructose Intolerance, Mitochondrial Myopathy Menkes Kinky Hair Syndrome, Fructose Intolerance, Mitochondrial Myopathy [hide]
• Symptoms (6): Wernicke-Korsakoff Syndrome, phosphoglycerate kinase deficiency, Organic brain syndrome, and 3 others Wernicke-Korsakoff Syndrome, phosphoglycerate kinase deficiency, Organic brain syndrome, Kallmann Syndrome, ATP7A Gene, Gilles de la Tourette syndrome [hide]
• Treatments (1): Fructose Fructose [hide]

About Argininemia

A rare autosomal recessive disorder of the urea cycle. It is caused by a deficiency of the hepatic enzyme ARGINASE. Arginine is elevated in the blood and cerebrospinal fluid, and periodic hyperammonemia may occur. Disease onset is usually in infancy or early childhood. Clinical manifestations include... more

A rare autosomal recessive disorder of the urea cycle. It is caused by a deficiency of the hepatic enzyme ARGINASE. Arginine is elevated in the blood and cerebrospinal fluid, and periodic hyperammonemia may occur. Disease onset is usually in infancy or early childhood. Clinical manifestations include seizures, microcephaly, progressive mental impairment, hypotonia, ataxia, spastic diplegia, and quadriparesis. (From Hum Genet 1993 Mar;91(1):1-5; Menkes, Textbook of Child Neurology, 5th ed, p51)

less