Overview
Disorders of amino acid and other organic acid metabolism are a broad group of inherited conditions where the body cannot properly break down certain building blocks of protein (called amino acids) or the chemical byproducts they produce (called organic acids). Normally, the body uses special proteins called enzymes to process these substances and turn them into energy or harmless waste products. In these disorders, one or more of those enzymes is missing or does not work correctly, causing harmful substances to build up in the blood, urine, and tissues — including the brain. This group includes many individual conditions, such as phenylketonuria (PKU), maple syrup urine disease (MSUD), propionic acidemia, methylmalonic acidemia, isovaleric acidemia, glutaric aciduria, and many others. Each condition has its own specific enzyme problem and pattern of symptoms, but they share common features: they often appear in newborns or infants, they can cause serious brain damage if not treated quickly, and they are usually managed through strict dietary changes and sometimes medications. Symptoms can range from mild to life-threatening and may include poor feeding, vomiting, unusual body odor, low energy, seizures, developmental delays, and intellectual disability. Many of these conditions are now detected through newborn screening programs, which has greatly improved outcomes. Treatment focuses on reducing the buildup of harmful substances, usually through a special low-protein diet, medical formula supplements, and in some cases specific medications or vitamins. Early diagnosis and consistent treatment are the most important factors in preventing serious complications.
Key symptoms:
Poor feeding or refusing to eat in infancyVomiting that keeps coming backUnusual or strange body odor (sometimes sweet, musty, or like sweaty feet)Extreme tiredness or low energy (lethargy)Seizures or convulsionsDelayed development — sitting, walking, or talking later than expectedIntellectual disability or learning difficultiesMuscle weakness or poor muscle tone (floppy baby)Breathing problemsIrritability or unusual crying in infantsSkin rashesLow blood sugar (hypoglycemia)Buildup of acid in the blood (metabolic acidosis)Liver problems or enlarged liverMovement problems or coordination difficulties
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 Disorder of amino acid and other organic acid metabolism.
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Specialists
View all specialists →No specialists are currently listed for Disorder of amino acid and other organic acid metabolism.
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
No travel grants are currently matched to Disorder of amino acid and other organic acid metabolism.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Which specific condition within this group does my child have, and what does that mean for their long-term health?,What foods are safe to eat, and how do I get started with the special diet and medical formula?,What are the warning signs of a metabolic crisis, and exactly what should I do if one happens?,How often do we need blood tests, and what levels are we trying to keep in the safe range?,Are there any medications or vitamins that could help my child's specific condition?,What support is available for school — does my child need an individualized education plan (IEP)?,Are there clinical trials or new treatments being studied that my child might qualify for?
Common questions about Disorder of amino acid and other organic acid metabolism
What is Disorder of amino acid and other organic acid metabolism?
Disorders of amino acid and other organic acid metabolism are a broad group of inherited conditions where the body cannot properly break down certain building blocks of protein (called amino acids) or the chemical byproducts they produce (called organic acids). Normally, the body uses special proteins called enzymes to process these substances and turn them into energy or harmless waste products. In these disorders, one or more of those enzymes is missing or does not work correctly, causing harmful substances to build up in the blood, urine, and tissues — including the brain. This group inclu
How is Disorder of amino acid and other organic acid metabolism inherited?
Disorder of amino acid and other organic acid metabolism follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.