Short chain acyl-CoA dehydrogenase deficiency

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ORPHA:26792OMIM:201470E71.3
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Overview

Short chain acyl-CoA dehydrogenase deficiency, often called SCADD, is a rare inherited metabolic disorder. It affects the way the body breaks down certain fats for energy. Specifically, the body has trouble processing short-chain fatty acids — a type of fat found in food and stored in the body. This happens because an enzyme called short chain acyl-CoA dehydrogenase (SCAD) does not work properly or is missing. This enzyme is needed inside cells to convert short-chain fatty acids into usable energy, especially when the body is under stress, fasting, or fighting an illness. SCADD is also sometimes written as SCAD deficiency. Many people identified with SCADD through newborn screening have no symptoms at all, which has made doctors rethink how serious this condition truly is for most people. When symptoms do occur, they can include low muscle tone, developmental delays, feeding difficulties in infancy, and episodes of low blood sugar. Some children may have seizures or behavioral challenges. There is no cure for SCADD, but management focuses on avoiding fasting, eating a balanced diet, and getting extra support during illness. Many people with SCADD live normal or near-normal lives, especially those diagnosed early through newborn screening. Treatment is largely supportive and tailored to each person's symptoms.

Also known as:

Key symptoms:

Low muscle tone (floppy muscles), especially in babiesFeeding difficulties in infancyDevelopmental delays (reaching milestones later than expected)Low blood sugar (hypoglycemia), especially during illness or fastingSeizuresBehavioral problems or attention difficultiesFatigue or low energyPoor weight gain or failure to thrive in infantsIntellectual disability (in some cases)Episodes of vomiting during illness

Clinical phenotype terms (24)— hover any for plain English
Ethylmalonic aciduriaHP:0003219Elevated circulating acylcarnitine concentrationHP:0045045Increased level of methylsuccinic acid in urineHP:0410153Hypoglycemic encephalopathyHP:0006929Ketotic hypoglycemiaHP:0012734
Inheritance

Autosomal recessive

Passed on when both parents carry the same gene change; often skips generations

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Short chain acyl-CoA dehydrogenase deficiency.

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No actively recruiting trials found for Short chain acyl-CoA dehydrogenase deficiency at this time.

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No specialists are currently listed for Short chain acyl-CoA dehydrogenase deficiency.

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Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

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Community

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Caregiver Resources

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Social Security Disability

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Questions for your doctor

Bring these to your next appointment

  • Q1.Does my child actually need treatment, or is this a finding that may never cause symptoms?,What should I do if my child gets sick and cannot eat — do we have an emergency plan?,Are there any dietary changes we should make right away?,Should my child take riboflavin supplements, and is there evidence this helps?,How often should we have follow-up testing, and what are we monitoring for?,Should other family members be tested for this condition?,What signs should prompt me to take my child to the emergency room?

Common questions about Short chain acyl-CoA dehydrogenase deficiency

What is Short chain acyl-CoA dehydrogenase deficiency?

Short chain acyl-CoA dehydrogenase deficiency, often called SCADD, is a rare inherited metabolic disorder. It affects the way the body breaks down certain fats for energy. Specifically, the body has trouble processing short-chain fatty acids — a type of fat found in food and stored in the body. This happens because an enzyme called short chain acyl-CoA dehydrogenase (SCAD) does not work properly or is missing. This enzyme is needed inside cells to convert short-chain fatty acids into usable energy, especially when the body is under stress, fasting, or fighting an illness. SCADD is also someti

How is Short chain acyl-CoA dehydrogenase deficiency inherited?

Short chain acyl-CoA dehydrogenase deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.