Overview
Disorders of neurotransmitter metabolism and transport (Orphanet code 79169) are a group of rare inherited conditions that affect how the brain makes, breaks down, or moves chemical messengers called neurotransmitters. Neurotransmitters — such as dopamine, serotonin, GABA, and glycine — are the signals that nerve cells use to communicate with each other. When the body cannot properly produce or handle these chemicals, the brain and nervous system do not work as they should. These disorders can cause a wide range of neurological problems, often starting in infancy or early childhood. Common symptoms include movement difficulties, muscle tone problems (either too stiff or too floppy), developmental delays, seizures, and mood or behavioral changes. Because many different genes and pathways are involved, the exact symptoms and severity vary greatly from person to person depending on which specific disorder they have. Treatment depends on the specific type of neurotransmitter disorder. Some forms respond well to vitamin supplements or medications that replace or support the missing chemical, while others are harder to treat. Early diagnosis is very important because some of these conditions can be significantly improved with the right treatment started early. This group includes conditions such as aromatic L-amino acid decarboxylase (AADC) deficiency, succinic semialdehyde dehydrogenase (SSADH) deficiency, and several others.
Key symptoms:
Delayed development of motor skills such as sitting, standing, or walkingIntellectual disability or learning difficultiesSeizures or epilepsyAbnormal muscle tone — muscles that are too stiff or too floppyInvoluntary movements such as tremors or writhing motionsDifficulty speaking or communicatingBehavioral problems such as hyperactivity, aggression, or anxietySleep disturbancesExcessive sweating or temperature regulation problemsEye movement abnormalities such as drooping eyelids or abnormal eye rollingMood swings or emotional instabilityFatigue and low energyFeeding difficulties in infancy
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Disorder of neurotransmitter metabolism and transport.
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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
No travel grants are currently matched to Disorder of neurotransmitter metabolism and transport.
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 type of neurotransmitter disorder does my child have, and what gene is involved?,What treatment options are available for this specific subtype, and how quickly should we start?,Are there any treatments that could make symptoms worse that we should avoid?,What developmental outcomes can we realistically hope for with early treatment?,Should other family members be tested, and what is the chance of having another affected child?,Is my child eligible for any clinical trials or gene therapy programs?,What therapies — physical, speech, occupational — should we be starting right away?
Common questions about Disorder of neurotransmitter metabolism and transport
What is Disorder of neurotransmitter metabolism and transport?
Disorders of neurotransmitter metabolism and transport (Orphanet code 79169) are a group of rare inherited conditions that affect how the brain makes, breaks down, or moves chemical messengers called neurotransmitters. Neurotransmitters — such as dopamine, serotonin, GABA, and glycine — are the signals that nerve cells use to communicate with each other. When the body cannot properly produce or handle these chemicals, the brain and nervous system do not work as they should. These disorders can cause a wide range of neurological problems, often starting in infancy or early childhood. Common sy