E72.23

Clinical Information

• 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)

• A rare autosomal recessive inherited disorder caused by mutations in the ass1 and slc25a13 genes. It is characterized by a defective urea cycle, resulting in the accumulation of ammonia and other toxic substances in the blood.

• 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.

Details

• E72.23 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 E72.23 became effective on October 1, 2022.

• This is the American ICD-10-CM version of E72.23 – other international versions of ICD-10 E72.23 may differ.