Caring for someone with this diagnosis? Eleplan keeps diagnoses, medications, documents and every specialist in one plan.
Start free with Eleplan3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
ORPHA:445038Disease
Also called 3-methylglutaconic aciduria type 7 · MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome · MGA7
What it is
A rare organic aciduria characterized by increased urinary excretion of 3-methylglutaconic acid, variably associated with neutropenia (sometimes causing recurrent severe infections and potentially resulting in leukemia) and progressive neurologic manifestations, such as global developmental delay, intellectual disability, hypotonia, movement disorder, and seizures. Microcephaly, cataract, facial dysmorphism, growth retardation, endocrine abnormalities, and cardiomyopathy have also been reported. Brain imaging may show cerebral or cerebellar atrophy, or abnormalities of the basal ganglia.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Antenatal, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
6- 3-Methylglutaconic aciduriaDiagnostic criterion
- CataractDiagnostic criterion
- Decreased total neutrophil countDiagnostic criterion
- Nephrocalcinosis
- Primary microcephaly
- Renal cyst
Common30–79%
21- Abnormal basal ganglia morphology
- Abnormality of extrapyramidal motor function
- Abnormal pyramidal sign
- Bone marrow hypocellularity
- Cerebellar atrophy
- Cerebral atrophy
- Choreoathetosis
- Delayed gross motor development
- Developmental regression
- Encephalopathy
- Feeding difficulties
- Growth delay
- Hyperreflexia
- Hypotonia
- Increased circulating lactate concentration
- Infection associated neutropenia
- Intellectual disability
- Myoclonus
- Opisthotonus
- Progressive extrapyramidal movement disorder
- Spasticity
Sometimes5–29%
10- Cardiomyopathy
- Elevated circulating hepatic transaminase concentration
- Hepatic steatosis
- Hypertonia
- Hypothyroidism
- Neonatal hypoglycemia
- Nystagmus
- Renal insufficiency
and 2 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
Powered by Eleplan
A rare diagnosis is just the start. Eleplan keeps the whole care plan in one place.
Diagnoses, medications, documents, appointments, and the whole care team — organized and always in sync, so you are not retelling the same story to every new specialist. With Ellie, your AI care assistant, on top of it. Free to start.