Disturbances of amino-acid transport

This code signifies a group of inherited metabolic disorders characterized by impaired transport of specific amino acids across cell membranes, often in the kidneys or intestines. These defects lead to abnormal accumulation or excretion of amino acids, impacting various bodily functions.

Use this code for diagnoses such as cystinuria, Hartnup disease, or other identified defects in amino acid transport systems. Documentation should clearly state the specific amino acid transport disorder, often confirmed by genetic testing or metabolic screening.

• Distinguish from general amino acid metabolism disorders (e.g., phenylketonuria), which fall under different code categories.
• Always look for documentation of the specific transport defect rather than just elevated amino acid levels.
• Consider sequencing this code as a primary diagnosis when it is the main reason for the encounter, or as a secondary diagnosis if it's a co-morbidity.