From the Research
Relationship between MCAD Deficiency and Intrauterine Growth Restriction (IUGR)
There is no direct evidence in the provided studies to suggest a relationship between Medium Chain Acyl-CoA Dehydrogenase (MCAD) deficiency and intrauterine growth restriction (IUGR) [ 1, 2, 3, 4, 5 ].
Clinical Presentation and Outcomes of MCAD Deficiency
- MCAD deficiency is a fatty acid oxidation disorder that can have variable clinical severity [ 5 ].
- Clinical presentation includes hypoglycemia, vomiting, lethargy, encephalopathy, respiratory arrest, hepatomegaly, seizures, apnea, cardiac arrest, coma, and sudden and unexpected death [ 3 ].
- Long-term outcomes include developmental and behavioral disability, chronic muscle weakness, failure to thrive, cerebral palsy, and attention deficit disorder (ADD) [ 3 ].
Diagnosis and Management of MCAD Deficiency
- Diagnosis can be made through DNA-based tests for K304E mutations using the polymerase chain reaction (PCR), and the detection of abnormal metabolites in urine [ 3 ].
- Screening technologies include tandem mass spectrometry (MS/MS), which detects abnormal metabolites mostly in blood [ 3 ].
- Management includes preventing stress caused by fasting and maintaining a high-carbohydrate, reduced-fat diet, and carnitine supplementation [ 3 ].