MCAD deficiency

hypoglycemia (Low blood sugar), vomiting, lethargy, encephalopathy (brain disease), respiratory arrest, hepatomegaly (enlarged liver), seizures, apnea, cardiac arrest, coma, and sudden death. Long-term outcomes may include developmental and behavioral disability, chronic muscle weakness, failure to thrive, cerebral palsy, and attention deficit hyperactivity disorder (ADHD).

A precipitating factor is needed for clinical symptoms to present. It is often in times of metabolic stress induced by fasting or infection, when the demands on fatty acid oxidation are particularly high, that an MCAD-deficient patient may present with symptoms. Factors that may contribute to presentation and/or increased severity of clinical outcomes include prolonged fasting, infections or recent immunization, age, and family history of Sudden Infant Death Syndrome (SIDS) or MCAD deficiency.

MCAD mutations can be identified through DNA-based tests using polymerase chain reaction (PCR) and therefore can be detected in newborns by DNA analysis from newborn blood spots. Mass screening for MCAD deficiency, however, is generally conducted with the detection of abnormal metabolites in urine or blood by tandem mass spectrometry . Typically, this technique is used as an initial screening modality followed by confirmation of MCAD deficiency with urine organic acid profile or DNA mutation analysis. Testing for MCAD deficiency can be done as one of the battery of newborn screening tests.

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