Living with 3-methylglutaconic aciduria, type VIIB
A rare metabolic condition that can lower white blood cells and affect the brain, with delayed development and seizures.
Understanding 3-methylglutaconic aciduria, type VIIB
It can lower neutrophils, a type of white blood cell, which can lead to frequent and severe infections. It also causes global developmental delay and intellectual disability, low muscle tone, movement difficulties, and seizures. Some people have a smaller head size or cataracts. Brain scans may show shrinkage. GARD lists onset as during pregnancy and as a newborn.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low white blood cells with infections (neutropenia)
- Intellectual disability
- Delayed motor skills
- Muscle stiffness (spasticity)
- Clouding of the eye lens (cataract)
- Feeding difficulties
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include allergy and immune system specialists, brain and nervous system specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in CLPB are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Allergy and immune system specialists (allergists / immunologists); Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Immune Deficiency Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Immune Deficiency Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the CLPB gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: 3-methylglutaconic aciduria type 7; 3-methylglutaconic aciduria type vii; 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia; 3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome; 3-methylglutaconic aciduria, type vii, with cataracts, neurologic involvement and neutropenia; clpb 3-methylglutaconic aciduria
Patient organizations
- Immune Deficiency FoundationPrimary immunodeficiency · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with 3-methylglutaconic aciduria, type VIIB.
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