Table 1.

Typical Urine Metabolite Profile in Squalene Synthase Deficiency

Testing TechniqueElevated Metabolites
Urine organic acid GC-MS
  • Methylsuccinic acid
  • Mevalonic lactone
  • 3-methylhex-2-enedioic acid
  • 2,6-dimethylhept-2-enedioic acid
  • 3,7-dimethyl-2,6-dienedioic
NMRS profiles
  • 3-methylhex-2,4-dienedioic acid
  • 3-methylhex-3,4-dienedioic acid

GC-MS = gas chromatography-mass spectroscopy; NMRS = nuclear magnetic resonance spectroscopy

From: Squalene Synthase Deficiency

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