1/2. blindness due to non-ketotic hyperglycinemia: report of a 38-year-old, the oldest case to date.We report a 38-year-old woman with a mild form of hyperglycinemia complicated with optic nerve atrophy and convulsion. She was normal at birth and showed normal mental and physical development. After the age of 13, her visual acuity rapidly decreased. At the age of 33, she had numerous episodes of tonic seizures lasting for 1-2 minutes. She had optic atrophy, but no intellectual impairment. glycine levels of the plasma, urine and cerebrospinal fluid were markedly increased, but the CSF/serum glycine ratio was slightly higher than the normal range. Although there is one case of retinal impairment of hyperglycinemia in the literature, this is the first report of blindness with hyperglycinemia in a 38-year-old woman.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/2. Succinyl-CoA:acetoacetate transferase deficiency: identification of a new patient with a neonatal onset and review of the literature.We describe the clinical symptoms and biochemical findings of a patient with succinyl-CoA:acetoacetate transferase deficiency who presented in the neonatal period and review the current literature on this subject. Our patient was initially suspected to have distal renal tubular acidosis, and subsequently, a fasting test revealed severe metabolic ketoacidosis with normal blood glucose after 13 h which suggest a defect in ketolysis. In his cultured skin fibroblasts succinyl-CoA:acetoacetate transferase was deficient (residual activity 15%). Treatment in the acute phase consisted of sodium bicarbonate. At the present age of 9 years, psychomotor and physical development are within normal limits. Conclusion: Defects of ketolysis probably are underdiagnosed disorders and should be considered in infants and young children with persistent ketosis.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |