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Neuropathological report of propionic acidemia
Ling-Xiao Cao1,2, Wen-Zheng Hu1,2, Wei Dong1,2
1China National Clinical Research Center for Neurological Diseases, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.
Insights
Propionic acidemia (PA), a metabolic disorder, causes severe brain damage. This study details the first brain autopsy of a PA patient with identified genetic mutations, revealing widespread neurological damage.
Area of Science:
- Biochemistry
- Genetics
- Neuropathology
Background:
- Propionic acidemia (PA) is an inherited metabolic disorder.
- It results from mutations in the propionyl CoA carboxylase (PCC) gene.
- PA affects multiple organ systems, including the brain.
Observation:
- A male infant presented with lethargy and poor feeding, progressing to coma.
- Laboratory results confirmed PA; genetic analysis identified compound heterozygous mutations in the PCCB gene.
- Neuropathological examination of the brain revealed astrocytosis, neuronal and oligodendrocytic loss, and demyelination.
Findings:
- The patient exhibited widespread neuropathological changes including spongiosis, vacuolization, Alzheimer type II astrocytes, and activated microglia.
- Specific brain regions affected included the brainstem, motor cortex, basal ganglia, and thalamus.
- This is the first brain autopsy report of PA with a confirmed genetic cause.
Implications:
- This case highlights the severe neurological impact of PA.
- Understanding these neuropathological findings is crucial for diagnosing and managing PA.
- Further research into PA's neurological mechanisms may inform therapeutic strategies.
Abstract:
Propionic acidemia (PA) is an autosomal recessive inheritable metabolic disease caused by mutations in the propionyl CoA carboxylase gene (PCC) that affects multiple systems of the human body. Here, we report neuropathological findings of a PA patient. The patient was a male infant who presented with increasing lethargy and poor feeding from four days postpartum. He gradually became comatose and died from complications after liver transplantation at three months old. The results of laboratory examination were consistent with PA, and genetic analysis revealed compound heterozygous mutations in the gene for PCC subunit beta: c.838dupC (rs769968548) and c.1127G>T (rs142982097). Brain-restricted autopsy was performed 23 h after his death, and the neuropathological examination revealed distinct astrocytosis, oligodendrocytic loss, neuronal loss, and demyelination across the brainstem, motor cortex, basal ganglia, and thalamus. Spongiosis, vacuolization, and the appearance of Alzheimer type II astrocytes and activated microglia were observed as well. This is the first brain autopsy report of PA with a clear genetic cause.
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