Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype. Am J Med Genet. 2004; 125A: 310-314 Bohm M. Pronicka E. Karczmarewicz E. et al. [ejpn-journal.com]

De Toni-Fanconi-Debre syndrome may also be present and may include excessive thirst, excessive urination, and excessive excretion of glucose, phosphates, amino acids, bicarbonate, calcium and water in the urine. [rarediseases.org]

• Hypothermia

  [from OMIM] Show allHide all Abnormal cellular phenotype Decreased activity of mitochondrial complex IV Abnormality of head or neck Short chin Abnormality of metabolism/homeostasis Hypothermia Lactic acidosis Metabolic acidosis Abnormality of the cardiovascular [ncbi.nlm.nih.gov]

• Tachypnea

  […] cardiovascular system Aortic regurgitation Hypertrophic cardiomyopathy Left ventricular noncompaction Patent ductus arteriosus Tricuspid regurgitation Abnormality of the musculoskeletal system Hypotonia Neonatal hypotonia Abnormality of the respiratory system Tachypnea [ncbi.nlm.nih.gov]

• Failure to Thrive

  Affected individuals have hypotonia, weakness, and failure to thrive, resulting in death in infancy. [ncbi.nlm.nih.gov]

  Affected infants may also fail to gain weight at the expected rate (failure to thrive) and/or exhibit a weak cry; difficulties sucking, swallowing, and/or breathing; and/or “floppiness” or poor muscle tone (hypotonia). [rarediseases.org]

• Regurgitation

  Hypertrophic cardiomyopathy Left ventricular noncompaction Patent ductus arteriosus Tricuspid regurgitation Abnormality of the musculoskeletal system Hypotonia Neonatal hypotonia Abnormality of the respiratory system Tachypnea IMPORTANT NOTE: NIH does [ncbi.nlm.nih.gov]

• Neonatal Hypotonia

  Neonatal hypotonia Abnormality of the respiratory system Tachypnea IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. [ncbi.nlm.nih.gov]

Other treatment is symptomatic and supportive. [rarediseases.org]

Endothelial dysfunction and coronary artery disease: assessment, prognosis and treatment. Coron Artery Dis, 25(8), 713-724. [ Links ] 30. Hadi, H., Carr, C. and Suwaidi, J. (2005). [scielo.sa.cr]

Treatment of chronic congenital lactic acidosis by oral administration of dichloroacetate. [pedneur.com]

New approaches to the treatment of mitochondrial disorders. Reprod Biomed Online. 2004 Jan; 8: 16-23 Jaksch M. Paret C. Stucka R. et al. [ejpn-journal.com]

Endothelial dysfunction and coronary artery disease: assessment, prognosis and treatment. Coron Artery Dis, 25(8), 713-724. [ Links ] 30. Hadi, H., Carr, C. and Suwaidi, J. (2005). [scielo.sa.cr]