maple-syrup-urine disease

Possible changes in myelin are not reflected in changes in total phospholipids, which are normal in phenylketonuria and maple-syrup-urine disease, and in hyperphenylalaninemic rat brain.

1975, Gerald E. Gaull, Harris H. Tallan, Abel Lajtha, David K. Rassin, “Pathogenesis of Brain Dysfunction in Inborn Errors of Amino Acid Metabolism”, in Gerald E. Gaull, editor, Biology of Brain Dysfunction, volume 3, New York, N.Y.; London: Plenum Press, →ISBN, section VI (Effects of Metabolic Sequelae on Synthesis of Lipids and Myelin), page 108

Chuang DT, Ku LS, Cox RP: Biochemical basis of thiamin-responsive maple-syrup-urine disease. Clin Res 30: 556A, 1982.

1984, William L. Nyhan, Abnormalities in Amino Acid Metabolism in Clinical Medicine, →ISBN, page 34

However, because of the rarity of maple-syrup-urine disease, I doubt that mass screening will be adopted in the near future.

1988 April 19, Peter H. Gott, “Rare disease produces swelling”, in The Evening Sun, volume 152, number 31, pages B—2

For example, a “comb-like” central rhythm has been observed in neonates with maple-syrup-urine disease, and bifrontal slow spike-and-wave discharges have been reported in the ring 20 chromosome syndrome.

2007, James J. Riviello, Jr., “Pediatric EEG Abnormalities”, in Andrew S. Blum, Seward B. Rutkove, editors, The Clinical Neurophysiology Primer, Totowa, N.J.: Humana Press, →ISBN, section II (Electroencephalography), page 180