Elevated C8 with Lesser Elevations of C6 and C10 AcylcarnitineMediumChain AcylCoA Dehydrogenase Deficiency MCADDifferential Diagnosis Mediumchain acylCoA dehydrogenase deficiency MCAD MediumChai ID: 942759
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Newborn Screening ACT Sheet Elevated C8 with Lesser Elevations of C6 and C10 AcylcarnitineMediumChain AcylCoA Dehydrogenase Deficiency (MCAD)Differential Diagnosis: Mediumchain acylCoA dehydrogenase deficiency (MCAD). MediumChain KetoacylCoA iolase Deficiency (MCAT) (MCKAT) You ShouldTake the Following IMMEDIATE Actions Contact family to inform them of the ne
wborn screening result and ascertain clinical status (poor feeding, vomiting, and lethargy).Immediate telephone consultation with pediatric metabolic specialist (See attached list)Evaluate the newborn (poor feeding, lethargy, hypotonia, and hepatomegaly). Diagnostic Evaluation: Plasma acylcarnitine analysis will show characteristic pattern consistent with MCA