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Methylmalonic acidaemia masquerading as a neurodegenerative disorder
Nikita Diwan1, Shalini Tripathi2, Mala Kumar2
1Paediatrics, King George's Medical College, Lucknow, Uttar Pradesh, India angelsanddemons.nik@gmail.com.
BMJ Case Reports
|January 23, 2025
Summary
Methylmalonic acidaemia (MMA) can mimic neurodegenerative disorders in toddlers. Early diagnosis via specialized testing and prompt treatment with diet and supplements led to significant developmental improvements.
Area of Science:
- Neurology
- Metabolic Disorders
- Pediatrics
Background:
- Neuroregression in toddlers can be misdiagnosed as neurodegenerative disorders.
- Atypical presentations challenge differential diagnoses in pediatric neurology.
- Gastroenteritis can precede neurological symptoms in some metabolic conditions.
Purpose of the Study:
- To highlight the diagnostic challenges of methylmalonic acidaemia (MMA).
- To present a case of MMA mimicking neurodegenerative disorders in a toddler.
- To emphasize the importance of early diagnosis and treatment for MMA.
Main Methods:
- Clinical case presentation.
- Neuroimaging, fundus evaluation, evoked potentials, and nerve conduction velocity.
- Gas chromatography-mass spectrometry and tandem mass spectrometry for metabolic screening.
Main Results:
- Initial investigations were inconsistent with suspected neurodegenerative disorders.
- Specialized metabolic testing identified methylmalonic acidaemia (MMA).
- Treatment with a low-protein diet, vitamin B12, and levocarnitine resulted in developmental improvements.
Conclusions:
- Methylmalonic acidaemia can present atypically, mimicking neurodegenerative conditions.
- Early and accurate diagnosis through specialized testing is crucial for effective management.
- Prompt intervention in MMA leads to significant developmental recovery and prevents further regression.
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