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
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Short chain acyl-CoA dehydrogenase deficiency.
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Specialists
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
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Caregiver Resources
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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.