SCAD Deficiency Newborn Screen Confirmation Protocol

Guides confirmation testing for short-chain acyl-CoA dehydrogenase (SCAD) deficiency detected by newborn screening, using plasma butyrylcarnitine (C4) levels, ACADS gene variant pathogenicity, and clinical correlation.

Weight
Height
Clinical Guidance

BMI is a screening measure of body size, not a direct measure of body fat. The standard WHO categories are underweight (<18.5), normal (18.5–24.9), overweight (25–29.9), and obese (≥30).

BMI can overestimate body fat in athletes with high muscle mass and underestimate it in older adults with low muscle mass. Interpret it alongside waist circumference and clinical context rather than as a standalone diagnosis.

⚕ Clinical Disclaimer: These calculators are for educational and reference purposes only. Always verify results with qualified clinical judgment and current clinical guidelines. Do not use as a sole basis for medical decisions.
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How It Works

Guides confirmation testing for short-chain acyl-CoA dehydrogenase (SCAD) deficiency detected by newborn screening, using plasma butyrylcarnitine (C4) levels, ACADS gene variant pathogenicity, and clinical correlation

Each component has a specific meaning:

  • Plasma butyrylcarnitine levels — The plasma butyrylcarnitine levels recorded for the scenario being assessed.
  • ACADS gene variant pathogenicity — The acads gene variant pathogenicity recorded for the scenario being assessed.
  • Clinical correlation — The clinical correlation recorded for the scenario being assessed.

Note: Interpret the scad deficiency result against the thresholds and context described above.

How to Use

Enter the plasma butyrylcarnitine levels, ACADS gene variant pathogenicity, clinical correlation for the scenario you are assessing. Guides confirmation testing for short-chain acyl-CoA dehydrogenase (SCAD) deficiency detected by newborn screening, using plasma butyrylcarnitine (C4) levels, ACADS gene variant pathogenicity, and clinical correlation. Use the scad deficiency result to inform your calculation.

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Frequently Asked Questions