Glutaric Acidemia Type 1: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Glutaric Acidemia Type 1?
A metabolic specialist is the main type of doctor for this condition. It is an inherited disorder. The severity varies widely, from mild to severe. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is glutaric acidemia type 1?
Glutaric acidemia type 1 is an inherited disorder. The body is unable to process certain proteins properly. It is also called glutaric aciduria type I. People with this condition do not make enough of one of the enzymes. The enzyme is needed to break down certain amino acids found in the proteins we eat. The breakdown products of these amino acids build up in tissues of the body. This buildup can damage the brain, especially the area of the brain called the basal ganglia. The basal ganglia helps control the body's movements.
Symptoms
In most cases, signs and symptoms first occur in infancy or early childhood. In a small number of affected people, the disorder first becomes apparent in adolescence or adulthood. Some people are only mildly affected, while others have severe problems.
- Some babies are born with unusually large heads (macrocephaly).
- They may have spasms, jerking, rigidity, or decreased muscle tone.
- Some people have developed bleeding in the brain or eyes that could be mistaken for the effects of child abuse.
Stress may lead to worsening of the signs and symptoms. Stress can come from infection, fever or other demands on the body. Stress can set off an episode. An episode is a sudden crisis of brain injury. Recovery may be only partial.
Causes and who gets it
Mutations in the GCDH gene cause glutaric acidemia type 1. They prevent production of the enzyme. The breakdown products can build up to abnormal levels. This happens especially at times when the body is under stress.
This condition is inherited in an autosomal recessive pattern. This means both copies of the gene in each cell have mutations. The parents each carry one copy of the mutated gene. They typically do not show signs and symptoms of the condition. The condition occurs in approximately 1 in 100,000 individuals.
How doctors diagnose it
It is on the recommended uniform newborn screening panel in the United States.
A positive newborn screening result should be confirmed with other tests. These include urine or blood tests, GCDH gene testing, or a GCDH enzyme test.
Treatment
Treatment includes a low lysine diet (lysine is an amino acid found in protein). It also includes L-carnitine supplements. Emergency treatment is stepped up when the child is ill. An experienced team of specialists should start and monitor it. Most people stay free of symptoms if treatment starts in the newborn period.
Strict dietary control may help limit progression of the neurological damage.
Infections, immunizations or surgery can set off these episodes. Good medical care can minimize or prevent episodes. They can also be prevented by avoiding long periods without calories or adequate hydration.
Routine treatment does not protect against these crises, so emergency treatment is crucial when a child is at risk. L-carnitine can cause diarrhea and a fish odor. The dose may be reduced if they occur.
When to see a doctor
If a child with this condition has a fever, repeated vomiting or diarrhea, or is eating and drinking less than usual, get care right away. Go to a metabolic center or the closest hospital. Emergency treatment should start without delay.
Call 911 or go to the emergency room if a child has a seizure. Call 911 or go to the emergency room if a child has trouble breathing. Call 911 or go to the emergency room if a child is unconscious. Call 911 or go to the emergency room if a child has a change in mental status. An infection or fever may trigger an episode that causes serious damage to the basal ganglia. Damage to the basal ganglia will make it hard for the child to control the movements of their body. Rarely, in some children, the brain damage will happen without a triggering event.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. A doctor in one of these practices can evaluate your child, coordinate referrals to a metabolic specialist, and help keep track of the care plan from the metabolic team.
Common questions
Is glutaric acidemia type 1 serious?
Yes, some people have severe problems. Others are only mildly affected.
Should my child with glutaric acidemia type 1 go to the hospital for a fever?
Yes, get care right away, because illness can set off a sudden brain crisis. Go to a metabolic center or the closest hospital. Emergency treatment should start without delay.
Can episodes be prevented?
Good medical care can minimize or prevent episodes. Routine treatment does not protect against them. So a child at risk needs emergency treatment.
Is glutaric acidemia type 1 passed down in families?
Yes, it is inherited. The parents typically do not show signs and symptoms of the condition.
Is it part of newborn screening?
Yes, it is on the recommended uniform newborn screening panel in the United States.
Sources
- MedlinePlus Genetics - Glutaric acidemia type I
- Rare Diseases Clinical Research Network - Glutaric aciduria type 1
- National Library of Medicine (PubMed Central) - Diagnosis and management of glutaric aciduria type I - revised recommendations
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
