Download Atlas of Inherited Metabolic Diseases 3E by Nyhan, William L.; Barshop, Bruce Allen; Al-Aqeel, Aida I PDF

By Nyhan, William L.; Barshop, Bruce Allen; Al-Aqeel, Aida I

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In patients with cobalamin deficiency, concentrations in CSF tend to be much higher than in plasma [69]. Propionic acid also accumulates in the plasma of patients with methylmalonic acidemia [70], and 3-hydroxypropionate [71] and methylcitrate [72] are found in the urine. The administration of isoleucine, threonine, valine, or methionine results in the formation of methylmalonic acid [73]. The diagnosis of methylmalonic acidemia is increas­ ingly made by MS/MS, not only in programs of newborn screening, but by quantitative analysis of acylcarnitine profiles of plasma (Chapter 1).

There was a diffuse pattern of abnormal signal intensity in the cerebral hemispheres and focal areas of abnormal signal in the basal ganglia. 7 TJ: A boy with B12-responsive methylmalonic acidemia of the cbl A type. He had only the initial severe acidotic episode, but his behavior was sufficiently unusual that he had been characterized as autistic. 8 Magnetic resonance image of the brain of TJ revealed increased intensity of T2 signal in the basal ganglia. patients, but they are also seen in cobalamin-responsive patients [34–40].

12. Ostergaard E, Hansen FJ, Sorensen N et al. Mitochondrial encephalo­myopathy with elevated methylmalonic acid is caused by SUCLA2 mutations. Brain 2007; 130: 853. References 29 13. Ostergaard E, Christensen E, Kristensen E et al. Deficiency of the a subunit of succinate-CoA ligase causes fatal infantile lactic acidosis with mtDNA depletion. Am J Hum Genet 2007; 81: 383. 14. Morrow G, Barness LA, Cardinale GJ et al. Congenital methylmalonic acidemia: enzymatic evidence for two forms of the disease.

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