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Table 3 Overview of all 13 treatable IEMs presenting as CP mimics identified by clinical experts on our team

From: Treatable inborn errors of metabolism presenting as cerebral palsy mimics: systematic literature review

Biochemical category Disease name OMIM# Gene(s) Treatment Effect Level of evidence
Amino acids PSAT deficiency 610992 PSAT1 (AR) L-serine & +/−glycine supplements Primary/targeting underlying pathophysiology 4
  PSPH deficiency (Serine deficiency) 614023 PSPH (AR) L-serine & +/−glycine supplements Primary/targeting underlying pathophysiology 4
Creatine Arginine:glycine amidinotransferase (AGAT) deficiency 612718 GATM (AR) Creatine supplements Primary/targeting underlying pathophysiology 4
  Creatine transporter deficiency 300352 SLC6A8 (X-linked) Creatine, glycine, arginine supplements Primary/targeting underlying pathophysiology 4
Fatty acid oxidation Carnitine palmitoyltransferase I deficiency 255120 CPT1A (AR) Low-fat, high carbohydrate diet, avoid fasting, Medium Chain Triglyceride oil Stablizilng/preventative treatment 4
Hyperhomocystinuria Cobalamin deficiencies (e.g., C, D, E, F, G) 251110, 277400, 277410, 236270, 277380 MMACHC, MMADHC, MTRR, LMBRD1, MTR (AR) Hydroxy-/cyanocobalamin (+/− diet restriction, betaine, B12) Stabilizing/preventative treatment 4
Lipid storage (Leukodystrophy) Cerebrotendinous xanthomatosis (CTX) 213700 CYP27A1 (AR) Chenodeoxycholic acid Stabilizing/preventative treatment 4
Organic acids HMG-CoA lyase deficiency 246450 HMGCL (AR) Protein restriction, avoid fasting, emergency regimen Stabilizing/preventative treatment 4-5
  mHMG-CoA synthase deficiency 605911 HMGCS2 (AR) Avoid fasting,emergency regimen, +/−dietary precursor restriction Stabilizing/preventative treatment 5
  SCOT deficiency 245050 OXCT1 (AR) Avoid fasting, protein restriction, emergency regimen Stabilizing/preventative treatment 5
Urea cycle Carbamoyl phosphate synthetase (CPS) deficiency 237300 CPS1 (AR) Dietary protein restriction, arginine supplement, sodium benzoate, phenylbutyrate (Liver transplantation) Stabilizing/preventative treatment (primary/targeting underlying pathophysiology) 2b (4)
  Citrullinemia type I (ASS deficiency) 215700 ASS1 (AR) Dietary protein restriction, arginine supplement, sodium benzoate, phenylbutyrate (Liver transplantation) Stabilizing/preventative treatment (primary/targeting underlying pathophysiology) 2b (4)
  N-acetyl-glutamate synthetase deficiency 237310 NAGS (AR) Dietary protein restriction, arginine supplement, sodium benzoate, phenylbutyrate (Liver transplantation) Stabilizing/preventative treatment 4
  1. The IEMs are grouped according to the biochemical phenotype as presented in standard textbooks, and alphabetically.