ORPHA:445038
3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
Also called 3-methylglutaconic aciduria type 7, MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome, MGA7
- Body system
- Immunological diseases
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Antenatal, Neonatal
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
About this disease
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.
Definition from Orphanet.
Common signs
- Renal cyst
- Nephrocalcinosis
- Cataract
- Decreased total neutrophil count
- 3-Methylglutaconic aciduria
- Primary microcephaly
Learn more
Source: Orphanet (Orphadata), ORPHA:445038. Data release 2026-06-23. www.orphadata.com — CC BY 4.0.