E72.21

Approximate Synonyms

• Arginase deficiency

• Argininaemia

Clinical Information

• 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)

• A rare autosomal recessive metabolic disorder characterized by a deficiency of the enzyme arginase resulting in accumulation of arginine and urea in the blood and cerebrospinal fluid. Signs and symptoms include developmental delays, spasticity, ataxia, seizures and mental retardation.

• Rare autosomal recessive disorder of the urea cycle; caused by a deficiency of the hepatic enzyme type i 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.

Details

• E72.21 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes.

• The 2023 edition of ICD-10-CM E72.21 became effective on October 1, 2022.

• This is the American ICD-10-CM version of E72.21 – other international versions of ICD-10 E72.21 may differ.