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Health Professionals Guide to Newborn Screening:

Newborn Screening Disorders

Fatty Acid Oxidation Disorders

Fatty Acid Oxidation Disorders (FOD) are a class of inborn errors of metabolism in which there is an enzyme defect in the fatty acid metabolic pathway (use of dietary and stored fat). Clinical symptoms of FOD disorders include hypotonia, lethargy and vomiting; the hypoglycemia can lead to coma, encephalopathy, hepatic failure or death.

Analyte Measured: Acylcarnitine profiling by Tandem Mass Spectrometry

Disorders Reported, Reporting Ranges and Prevalence:

Disorder

Abbrev.

Abnormal
Acylcarnitine(s) uM 

Prevalence
(estimated)

Medium Chain Acyl-CoA Dehydrogenase Deficiency MCAD C6 ³ 0.30
C8 ³ 0.50
C10:1 ³ 0.40
C8/C10 ³ 3.0		 1:23,000

Long Chain 3-Hydroxyacyl CoA Dehydrogenase Deficiency
Trifunctional Protein Deficiency

 LCHAD C16OH ³ 0.10
C16:1OH ³ 0.18
C18:1OH ³ 0.10
C18:2OH ³ 0.10		 Unknown

Very Long Chain Acyl-CoA Dehydrogenase Deficiency

 VLCAD C14 ³ 0.80
C14:1 ³ 0.60
C14:2 ³ 0.25
C16:1 ³ 1.04
C14:1/C16 ³ 0.25		 1:240,000
Short Chain Acyl-CoA Dehydrogenase Deficiency SCAD C4 ³ 1.20
C4/C2 ³ 0.08
C4/C3 ³ 0.91		 1:22,000
Carnitine Palmitoyltransferase Deficiency Type II CPT-II C16 ³ 8.70
C18:1 ³ 2.80
C18:2 ³ 0.90		 1:350,000

Glutaric Acidemia Type II

 GA-II C4 ³ 1.20
C5 ³ 0.44
C6 ³ 0.30
C8 ³ 0.50
C10 ³ 0.34
C5/C3 ³ 0.5		 1:465,000
2,4 Dienoyl-CoA Reductase Deficiency DRED C10:2 ³ 0.12 Unknown
Carnitine/Acylcarnitine Translocase Deficiency CAT C16 ³ 8.70
C18 ³ 2.24
C18:1 ³ 2.80
C18:2 ³ 0.90		 Unknown
Carnitine Uptake Defect CUD Free Carnitine £ 3.80 Unknown
Mediuum/Short Chain Hydroxylacyl CoA Dehydrogenase M/SCHAD C4OH ³ 0.48
C6OH ³ 0.10		 Unknown
Medium Chain 3-Ketoacyl CoA Thiolase Deficiency MCKT C3DC/C4OH ³ 0.48
C6DC ³ 0.20
C8DC ³ 0.10		 Unknown

Feeding Effect: None
Timing Effect: Early specimen collections may enhance the detection of these disorders.
Confirmation: Referral to metabolic center for specific enzyme analysis, metabolite analysis and/or mutation analysis.

Treatment:

 Low fat diet, carnitine supplements, avoid fasting.

Information on treatment centers is also available on this site.

For information about other screened disorders, click on the next page button, or follow one of these links:

• Argininosuccinic Acidemia (ASA) • Hemoglobin Variants
• Biotinidase Deficiency • Homocystinuria
• Congenital Adrenal Hyperplasia • Hypermethioninemia
• Congenital Hypothyroidism • Hyperphenyalaninemia
• Citrullinemia (Types I & II) • Maple Syrup Urine Disease
• Cystic Fibrosis • Organic Acidemias (14)

• Fatty Acid Oxidation Disorders (12)

 

• Phenylketonuria
(Includes Biopterin Cofactor defects
of regeneration and biosynthesis)

• Galactosemia • Severe Combined Immune Deficiency (SCID)
• Hemoglobin S-Beta Thallassemia • Sickle Cell Disease
• Hemoglobin S/C Disease • Tyrosinemia (Types I,II, & III)

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The Wisconsin Newborn Screening Laboratory
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Madison WI 53706
Phone: (608) 262-6547
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