Disorders of amino-acid transport
ICD-10 E72.0 is a billable code used to indicate a diagnosis of disorders of amino-acid transport.
Disorders of amino-acid transport encompass a range of metabolic conditions characterized by the impaired transport of amino acids across cell membranes. These disorders can lead to significant metabolic disturbances, as amino acids are crucial for protein synthesis, neurotransmitter production, and various metabolic pathways. Common conditions associated with amino-acid transport disorders include cystinuria, which results from defective renal tubular transport of cystine and other amino acids, and Hartnup disorder, which affects the absorption of neutral amino acids in the intestines and their reabsorption in the kidneys. Genetic mutations often underlie these disorders, leading to enzyme deficiencies that disrupt normal amino acid metabolism. Clinically, patients may present with symptoms such as growth retardation, neurological deficits, and renal complications. Diagnosis typically involves biochemical testing to measure amino acid levels in blood and urine, alongside genetic testing to identify specific mutations. Management strategies may include dietary modifications, supplementation of specific amino acids, and symptomatic treatment to address complications arising from the disorder.
Detailed family history and genetic testing results must be documented.
Patients with a family history of metabolic disorders presenting with symptoms.
Genetic counseling may be necessary for affected families.
Growth charts and developmental milestones should be included.
Infants or children presenting with failure to thrive or developmental delays.
Monitoring for long-term complications is crucial.
Used when a patient is suspected of having an amino-acid transport disorder based on clinical presentation.
Documentation of clinical symptoms and family history is required.
Genetic counseling may be necessary for families with a history of metabolic disorders.
Common symptoms include growth retardation, developmental delays, neurological deficits, and renal complications, depending on the specific disorder.
