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Plasma acylcarnitine profile of a patient with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. Abnormal elevation of octanoylcarnitine (C8) is characteristic of the disorder. |
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Clinical Indications for Testing
Inborn Errors of Metabolism
Inborn errors of metabolism encompass a wide variety of biochemical defects which are individually rare but collectively quite common. Symptoms are usually nonspecific and compatible with many non-genetic conditions.
Clinical indications leading to a metabolic evaluation may include:
- Neonatal illness or a “rule-out sepsis” picture
- Abnormal chemistries including metabolic acidosis, hyperammonemia, hypoglycemia and ketosis
- Episodic, unexplained illness in infancy or childhood
- Neurological abnormalities including hypotonia, dystonia, seizures, lethargy, and developmental delay
- Unexplained liver dysfunction
- Cardiomyopathy, presenting at any age
- Myopathy, exercise intolerance or rhabdomyolysis
- History of maternal Acute Fatty Liver of Pregnancy (AFLP) or Hypertension, Elevated Liver Enzymes, and Low Platelet (HELLP) syndrome
- Family history of sudden unexplained death, apparent life-threatening event or Reye syndrome
- Organomegaly, progressive mental retardation, coarse facial features
- Positive newborn screening result or positive family history
