Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a rare metabolism disorder that prevents the body from breaking down certain fatty acids and converting them into energy. Fatty acids like MCAD are used for energy when children’s bodies run low on sugars (carbohydrates).

The Metabolic Disease Program at Children's Hospital of Philadelphia (CHOP) provides state-of-the-art diagnostic and treatment services for children with genetic metabolic disorders. We use advanced tools to help diagnose, treat and monitor children with these complex conditions.

In Pennsylvania, New Jersey or Delaware, babies who receive abnormal results from these early metabolic screening tests can be referred to the Newborn Metabolic Screening Program at Children's Hospital of Philadelphia (CHOP).

May 30, 2017 · Babies with inherited metabolic disorders, such as medium-chain acyl-CoA dehydrogenase deficiency (let’s just call it MCAD) can be especially vulnerable to low blood sugar if they aren’t getting enough milk in the early days of breastfeeding.

Feb 29, 2024 · Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is a rare autosomal recessive disorder characterized by mitochondrial fatty acid β-oxidation impairment, leading to severe metabolic consequences.

The enzyme medium-chain acyl-CoA dehydrogenase (MCAD) is responsible for the dehydrogenation step of fatty acids with chain lengths between 6 and 12 carbons as they undergo beta-oxidation in the mitochondria.

Nov 28, 2023 · If you have MCAD deficiency, a sudden episode, called a metabolic crisis, can be caused by common illnesses, high fever, stomach problems or going too long without eating, known as prolonged fasting. MCAD deficiency is present from birth and is a lifelong condition.

In this single-center retrospective study, the clinical features, laboratory values, and outcomes of neonates identified to have MCAD and evaluated at the Children’s Hospital of Philadelphia...

Feb 29, 2024 · MCADD is an autosomal recessive disorder caused by mutations in the acyl-CoA dehydrogenase medium chain (ACADM) gene. The inability to provide energy to tissues when glycogen stores are depleted secondary to MCADD results in a wide array of symptoms.

Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency Differential Diagnosis: Glutaric acidemia type II. Condition Description: MCAD deficiency is a fatty acid oxidation (FAO) disorder, disrupting fatty acid breakdown at the level of medium-chain fats and is associated with characteristic elevations of medium-chain acylcarnitines.