Short-chain acyl-coenzyme A dehydrogenase deficiency

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Short-chain acyl-coenzyme A dehydrogenase deficiency
Synonyms	SCAD deficiency
Pronounce
Specialty	Medical genetics
Symptoms	Hypoglycemia, lethargy, muscle weakness, failure to thrive
Complications	N/A
Onset	Infancy or early childhood
Duration	Lifelong
Types	N/A
Causes	Mutations in the ACADS gene
Risks
Diagnosis	Genetic testing, newborn screening
Differential diagnosis	Medium-chain acyl-coenzyme A dehydrogenase deficiency, Glutaric acidemia type II
Prevention
Treatment	Dietary management, avoidance of fasting
Medication
Prognosis	Variable, can be managed with treatment
Frequency	Rare
Deaths

Short-chain acyl-coenzyme A dehydrogenase deficiency

Short-chain acyl-coenzyme A dehydrogenase deficiency

Short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD) is a rare metabolic disorder that affects the body's ability to break down certain fatty acids into energy. This condition is part of a group of disorders known as fatty acid oxidation disorders.

Causes

SCADD is caused by mutations in the ACADS gene, which provides instructions for making an enzyme called short-chain acyl-CoA dehydrogenase. This enzyme is involved in the breakdown of short-chain fatty acids. Mutations in the ACADS gene lead to a deficiency of this enzyme, resulting in the accumulation of fatty acids and their byproducts in the body.

Symptoms

The symptoms of SCADD can vary widely among affected individuals. Some people with SCADD may remain asymptomatic, while others may experience:

• Hypoglycemia (low blood sugar)
• Lethargy
• Poor feeding
• Vomiting
• Seizures
• Developmental delay

Diagnosis

SCADD is typically diagnosed through newborn screening programs that test for elevated levels of certain metabolites in the blood. Further diagnostic tests may include:

• Genetic testing to identify mutations in the ACADS gene
• Urine organic acid analysis
• Acylcarnitine profile

Treatment

Management of SCADD often involves dietary modifications to avoid fasting and to ensure a steady supply of energy. This may include:

• A high-carbohydrate, low-fat diet
• Frequent meals and snacks
• Supplementation with carnitine

Prognosis

The prognosis for individuals with SCADD is generally good, especially if the condition is detected early and managed appropriately. Many individuals with SCADD lead normal lives with few or no symptoms.

See also

• Fatty acid metabolism
• Inborn errors of metabolism
• Newborn screening

External links

• National Human Genome Research Institute - SCADD
• Genetic and Rare Diseases Information Center - SCADD