Clinical and Laboratory Findings of Inborn Errors of Metabolism

Clinical and Laboratory Findings of Inborn Errors of Metabolism

Clinical Findings AA OA UCD CD GSD FAD LSD PD MD
Episodic decompensation X + ++ + X + X
Poor feeding, vomiting, failure to thrive X + ++ + X X + + +
Dysmorphic features and/or skeletal or organ malformations X X X X + X X
Abnormal hair and/or dermatitis X X
Cardiomegaly and/or arrhythmias X X X + X
Hepatosplenomegaly and/or splenomegaly X + + + + + + X X
Developmental delay +/- neuroregression + + + X X X ++ + +
Lethargy or coma X ++ ++ + X ++ X
Seizures X X + X X X + + X
Hypotonia or hypertonia + + + + X + X + X
Ataxia X + X X X
Abnormal odor X + X
Laboratory Findings*                  
Primary metabolic acidosis X ++ + + X + X
Primary respiratory alkalosis +
Hyperammonemia X + ++ X + X
Hypoglycemia X X + X + X
Liver dysfunction X X X + X + X X X
Reducing substances X +
Ketones A H A A L/A L A A H/A
  • Within disease categories, not all diseases have all findings. For disorders with episodic decompensation, clinical and laboratory findings may be present only during acute crisis. For progressive disorders, findings may not be present early in the course of disease. 


  • AA = Amino acidopathy 
  • OA = Organic acidopathy 
  • UCD = Urea cycle defect 
  • CD = Carbohydrate disorder 
  • GSD = Glycogen storage disorder 
  • FAD = Fatty acid oxidation defect 
  • LSD = Lysosomal storage disease 
  • PD = Peroxisomal disorder 
  • MD = Mitochondrial disorder 


  1. ++ = Always present 
  2. + = Usually present 
  3. X = Sometimes present 
  4. – = Absent 
  • H = Inappropriately high
  • L = Inappropriately low 
  • A = Appropriate 
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