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[A form of late propionic acidemia]
Insights
Propionic acidemia, a metabolic disorder, can present with late-onset symptoms and varied neurological outcomes. This study highlights three cases, emphasizing the importance of early diagnosis and management for propionic acidemia.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Propionic acidemia is an inherited metabolic disorder affecting amino acid metabolism.
- It results from deficiency in propionyl-CoA carboxylase, leading to toxic metabolite accumulation.
Observation:
- Three cases of propionic acidemia are presented, including one boy (O.M.) and two sisters (C.V. and K.V.).
- Reduced propionyl-CoA carboxylase activity was observed in fibroblasts of O.M. (4.5%) and C.V. (2.5%).
- Clinical presentations varied significantly, from late-onset crises to latent disease.
Findings:
- O.M. experienced severe metabolic crises but achieved normal psychical development with minimal neurological sequelae by age 11.
- C.V. presented with a severe crisis at 34 months, resulting in significant neurological deficits.
- K.V. remained asymptomatic with a latent form of the disease at 40 months.
Implications:
- These cases illustrate a variant of propionic acidemia with delayed clinical manifestation.
- The findings underscore the unpredictable clinical spectrum and neurological impact of propionic acidemia.
- Biotin administration did not appear to influence the biological evolution in these patients.
Abstract:
Report of 3 cases of propionic acidemia which concern one boy (O.M.) in whom a formed diagnosis of hyperglycemia with ketosis had been established, and two sisters (C.V. and K.V.) of another family. The activities of propionyl-CoA carboxylase in O.M. and C.V. fibroblasts were reduced to 4.5 and 2.5% of control. After two severe metabolic crisis, at 6 and 44 months of age, O.M. has at the present time (11yrs) a normal psychical development, and very few neurological disorders. Propionic acidemia was manifested only at 34 months of age in C.V. with a very severe crisis of acidoketosis with hypoglycemia, leading to neurological sequellae which are still important at 56 months of age. The disease was entirely latent in K.V. at 26 months, when the diagnosis was proven; it remains latent at 40 months. These case reports represent a special form of propionic acidemia with late clinical expression. Biological evolution does not seem to be affected by prolonged administration of biotine.