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[Complex I and IV deficits in the mitochondrial respiratory chain in two siblings with type I glutaric aciduria]
A Martínez Bermejo1, I Pascual Castroviejo, B Merinero
1Servicio de Neuropediatría, Hospital La Paz, Facultad de Medicina, Universidad Autónoma, Madrid.
Insights
Glutaryl-CoA dehydrogenase deficiency causes Glutaric Aciduria Type I (GA-I), a condition mimicking Leigh syndrome. Early suspicion in infants with specific neurological and metabolic signs is crucial for diagnosis.
Area of Science:
- Biochemistry
- Genetics
- Neurology
Background:
- Glutaric Aciduria Type I (GA-I) is an inherited metabolic disorder.
- It is caused by a deficiency in Glutaryl-CoA dehydrogenase (GCDH).
- GA-I can present with neurological symptoms that may overlap with other conditions like Leigh syndrome.
Observation:
- Two brothers diagnosed with GA-I via GCDH deficiency in skin fibroblasts.
- One brother presented with an acute Reye-like syndrome at 6 months.
- The other brother showed neurological abnormalities at 9 months.
Findings:
- The patients exhibited hyperlactacidemia and hyperlactatorrachia.
- Mitochondrial abnormalities and deficiencies in respiratory chain complexes I and IV were observed in muscle cells.
- A presumptive diagnosis of Leigh syndrome was initially considered due to these findings.
Implications:
- This case highlights the importance of considering GA-I in infants with acute dystonia, psychomotor regression, and lactic acidosis.
- Hypodensity of the basal ganglia on imaging can be a key indicator for GA-I.
- Differentiating GA-I from Leigh syndrome is critical for appropriate management and treatment.
Abstract:
We report two brothers with a glutaric aciduria type I (GA-I) identified by Glutaryl-coenzyme A dehydrogenase deficiency in skin fibroblasts. The onset of neurologic abnormalities was at 6 and 9 months of age as an acute Reye-like presentation in one. Because of the hyperlactacidemia, hyperlactatorrachia, mitochondrial abnormalities in muscular cells and a deficiency in complex I and IV of the respiratory chain in isolated mitochondria from muscle, a presumptive diagnosis of Leigh syndrome was made. We analyze the difference between both disorders. GA-I should be suspected in patients with acute dystonia and psychomotor regression, lactic acidosis and hypodensity of the basal ganglia.