E72.02

Approximate Synonyms

• Hartnup disease

• Neutral 1 amino acid transport defect

Clinical Information

• An autosomal recessive disorder due to defective absorption of neutral amino acids by both the intestine and the proximal renal tubules. The abnormal urinary loss of tryptophan, a precursor of niacin, leads to a nicotinamide deficiency, pellagra-like light-sensitive rash, cerebellar ataxia, emotional instability, and aminoaciduria. Mutations involve the neurotransmitter transporter gene slc6a19.

• An autosomal recessive inherited metabolic disorder caused by mutations in the slc6a19 gene. It is characterized by defective absorption of neutral amino acids. Signs and symptoms include skin eruptions reminiscent of pellagra, aminoaciduria, and cerebellar ataxia.

• Disorder of amino acid transport characterized by the childhood or rarely adult) onset of photosensitive dermatitis and intermittent neurologic symptoms; ataxia, personality changes, migraine headaches, and photophobia may occur periodically; results from impaired sodium-dependent transport of neutral amino acids across the brush border membrane of the small intestine and renal tubular epithelium.

Details

• E72.02 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 E72.02 became effective on October 1, 2022.

• This is the American ICD-10-CM version of E72.02 – other international versions of ICD-10 E72.02 may differ.