Overview
Disorder of lysine and hydroxylysine metabolism is a group of rare inherited metabolic conditions in which the body cannot properly break down the amino acids lysine and hydroxylysine. Amino acids are the building blocks of proteins, and lysine is one of the essential amino acids we get from food. When the enzymes responsible for processing lysine and hydroxylysine do not work correctly, harmful substances can build up in the body, particularly affecting the brain and nervous system. This group includes several specific conditions such as glutaric aciduria type 1 (GA1), hyperlysinemia, saccharopinuria, and 2-aminoadipic aciduria, among others. Symptoms vary depending on the exact condition but can include developmental delay, intellectual disability, seizures, low muscle tone, and in some cases metabolic crises triggered by illness or fasting. Some forms are relatively mild, while others can cause serious neurological damage if not treated early. Treatment typically focuses on dietary management, including restricting lysine intake, and providing emergency protocols during illness to prevent metabolic crises. Some conditions in this group respond well to specific vitamin supplements such as riboflavin or carnitine. Early diagnosis through newborn screening, where available, can significantly improve outcomes. Ongoing care usually involves a team of metabolic specialists, dietitians, and neurologists working together to manage the condition throughout life.
Key symptoms:
Developmental delayIntellectual disabilitySeizuresLow muscle tone (floppy baby)Movement problems or involuntary movementsPoor feeding in infancyVomiting during illnessMetabolic crises with fever or illnessEnlarged head (macrocephaly)Muscle stiffness or spasticityUnusual body odor or urine smellFailure to grow or gain weight properlyIrritabilityLethargy or excessive sleepiness
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 lysine and hydroxylysine metabolism.
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Specialists
View all specialists →No specialists are currently listed for Disorder of lysine and hydroxylysine 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
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Caregiver Resources
NORD Caregiver Resources
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Family & Caregiver Grants
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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 type of lysine metabolism disorder does my child have, and what gene is involved?,What should our emergency protocol look like when my child gets sick with a fever or stomach bug?,How strict does the lysine-restricted diet need to be, and can we work with a metabolic dietitian?,Will my child need carnitine or vitamin supplements, and for how long?,What developmental milestones should I watch for, and when should I be concerned?,Is this condition included in newborn screening, and should my other children or future pregnancies be tested?,Are there any clinical trials or new treatments being studied for this condition?
Common questions about Disorder of lysine and hydroxylysine metabolism
What is Disorder of lysine and hydroxylysine metabolism?
Disorder of lysine and hydroxylysine metabolism is a group of rare inherited metabolic conditions in which the body cannot properly break down the amino acids lysine and hydroxylysine. Amino acids are the building blocks of proteins, and lysine is one of the essential amino acids we get from food. When the enzymes responsible for processing lysine and hydroxylysine do not work correctly, harmful substances can build up in the body, particularly affecting the brain and nervous system. This group includes several specific conditions such as glutaric aciduria type 1 (GA1), hyperlysinemia, saccha
How is Disorder of lysine and hydroxylysine metabolism inherited?
Disorder of lysine and hydroxylysine metabolism follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.