Isovaleric acidemia

This code identifies a rare autosomal recessive metabolic disorder characterized by a deficiency in isovaleryl-CoA dehydrogenase, leading to the accumulation of isovaleric acid and its derivatives. Patients typically present with a distinctive "sweaty feet" odor, feeding difficulties, lethargy, seizures, and developmental delay, often triggered by protein intake or illness.

Assign this code for patients diagnosed with isovaleric acidemia, confirmed through biochemical testing (e.g., elevated isovalerylcarnitine on newborn screening, increased isovaleric acid in urine organic acid analysis). It is appropriate for both initial diagnosis and ongoing management of the condition.

• Ensure documentation clearly states the diagnosis of isovaleric acidemia, often supported by laboratory findings.
• Do not confuse with other organic acidemias; verify the specific enzyme deficiency or metabolite accumulation.
• Consider sequencing this code as the primary diagnosis when it is the reason for the encounter, especially for genetic counseling, dietary management, or acute metabolic decompensation.