Table 2.

Summary of neoplastic features and surveillance recommendations for selected metabolic disorders

Metabolic pathway/enzymeAutosomaldominant condition, gene and OMIM ID#Autosomalrecessive condition, gene and OMIM ID#X-linked condition, gene and OMIM ID#Associated cancer(s)Cancer surveillance recommendations
Urea cyclen/aCitrullinemia: SLC25A13, #603471Ornithine transcarbamylase deficiency (OTCD): OTC, #311250Associated with OTCD:May consider adding AFP to scheduled metabolic bloodwork in those without a liver transplant
Argininosuccinate lyase deficiency: ASL, #207900Hepatocellular carcinoma (116)
Arginase deficiency: ARG1, #207800
Succinate dehydrogenase complexFamilial pheochromocytoma and paraganglioma syndrome:Leigh syndrome: SDHA #600857 SDHB (117)n/aAssociated with autosomal dominant mutations:See article by Rednam et al. (118) in this series.
SDHA #614165SDHB #606864SDHC #606864SDHD #606864 SDHAF2 #613019Pheochromocytoma, paraganglioma, gastrointestinal stromal tumor
Cowden syndrome 2: SDHB #612359Cowden syndrome–associated tumors
L-2- hydroxydehydrogenasen/aL-2-hydroxyglutaric aciduria: L2HGDH #236792n/aGliomatosis brain tumorsClinical/neurologic exam every 3–6 months Annual Brain MRIa (108)
Tyrosinemian/aTyrosinemia: FAH #276700n/aHepatocellular carcinoma (risk is reduced with diet and nitisinone treatment)AFP monthly for the first 6 months of life, then every 6 months (114)
Consider baseline US/MRI of liver
  • Abbreviations: AFP, alpha-fetoprotein; n/a, not applicable; US, ultrasound.

  • aWith contrast for the first study, then without contrast thereafter, unless an abnormality is identified.