E72.3

Applicable To

• Glutaric aciduria NOS

• Glutaric aciduria type I)

• Hydroxylysinemia

• Hyperlysinemia

Approximate Synonyms

• 2-ketoadipic acidemia

• Aciduria, ketoadipic

• Disorder of lysine and hydroxylysine metabolism

• Glutaric acidemia, type 1

• Glutaric aciduria, type 1

• Lysine and hydroxylysine metabolism disorder

Clinical Information

• A group of inherited metabolic disorders which have in common elevations of serum lysine levels. Enzyme deficiencies of alpha-aminoadipic semialdehyde dehydrogenase and the saccharopine dehydrogenases have been associated with hyperlysinemia. Clinical manifestations include mental retardation, recurrent emesis, hypotonia, lethargy, diarrhea, and developmental delay. from menkes, textbook of child neurology, 5th ed, p56)

• A rare autosomal recessive inherited metabolic disorder caused by deficiency of the enzyme glutaryl-coa dehydrogenase. It is characterized by abnormalities in the metabolism of lysine, hydroxylysine, and tryptophan that result in the accumulation and urinary excretion of glutaric acid. Patients present with brain atrophy, microcephaly, and acute dystonia.

Details

• E72.3 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 E72.3 became effective on October 1, 2022.

• This is the American ICD-10-CM version of E72.3 – other international versions of ICD-10 E72.3 may differ.