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A newborn with vomiting and metabolic acidosis has a distinctive "sweaty feet" odor. Isovalerylglycine is elevated in urine.
AR; IVD (isovaleryl-CoA dehydrogenase)
- Leucine degradation defect
- "Sweaty feet" odor
- Acute metabolic crises
- On RUSP
- Detected on newborn screening: elevated C5 (isovalerylcarnitine) on the acylcarnitine profile
- Urine organic acids: elevated isovalerylglycine and 3-hydroxyisovaleric acid
- Confirmation: IVD molecular testing or isovaleryl-CoA dehydrogenase enzyme assay
- Leucine restriction, glycine and carnitine supplementation
"Sweaty Feet": isovaleric acidemia causes a distinctive "sweaty feet" odor. "IsoValeric": elevated C5 on the NBS acylcarnitine profile (5 = V in Roman numerals).