Propionic Acidemia

  • Marjo S. van der Knaap
  • Jacob Valk

Abstract

Propinonic acidemia, also called ketotic hyperglycinemia, is a disorder of organic acid metabolism with autosomal recessive inheritance. Two forms of the disease can be distinguished: the severe neonatal onset form and the late onset form.

Keywords

Lactate Glycine Methionine Neutropenia Biotin 

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References

  1. Behbehani AW, Lehnert W, Langenbeck U, Luthe H, Baumgartner R (1984) Propionazidämie mit Myelinisierungsstörungen im ZNS. Klin Padiatr 196: 106–110PubMedCrossRefGoogle Scholar
  2. Brismar J, Ozand PT (1994) CT and MR of the brain in disorders of the propionate and methylmalonate metabolism. AJNR 15: 1459–1473PubMedGoogle Scholar
  3. Davies SEC, Iles RA, Stacey TE, de Sousa C, Chalmers RA (1991) Carnitine therapy and metabolism in the disorders of propionyl-CoA metabolism studied using 1H-NMR spectroscopy. Clin Chim Acta 204: 263–278PubMedCrossRefGoogle Scholar
  4. Gebarski SS, Gabrielsen TO, Knake JE, Latack JT (1983) Cerebral CT findings in methylmalonic and propionic acidemias. AJNR 4: 955–957PubMedGoogle Scholar
  5. Gortner L, Leupold D, Pohlandt F, Bartmann P (1989) Peritoneal dialysis in the treatment of metabolic crises caused by inherited disorders of organic and amino acid metabolism. Acta Paediatr Scand 78: 706–711PubMedCrossRefGoogle Scholar
  6. Gravel RA, Akerman BR, Lamhonwah AM, Loyer M, Léondel-Rio A, Italiano I (1994) Mutations participating in interallelic complementation in propionic acidemia. Am J Hum Genet 55: 51–58PubMedGoogle Scholar
  7. Harding BN, Leonard JV, Erdohazi M (1991) Propionic acidaemia:a neuropathological study of two patients presenting in infancy. Neuropathol Appl Neurobiol 17: 133–138PubMedCrossRefGoogle Scholar
  8. Kalloghlian A, Gleispach H, Ozand PT (1992) A patient with propionic acidemia managed with continuous insulin infusion and total parenteral nutrition. J Child Neurol 7: S88 - S91PubMedCrossRefGoogle Scholar
  9. Kendall BE (1992) Disorders of lysosomes, peroxisomes, and mitochondria. AJNR 13: 621–653PubMedGoogle Scholar
  10. Lamhonwah AM, Troxel CE, Schuster S, Gravel RA (1990) Two distinct mutations at the same site in the PCCB gene in propionic acidemia. Genomics 8: 249–254PubMedCrossRefGoogle Scholar
  11. Martin JJ, Schlote W (1972) Central nervous system lesions in disorders of amino-acid metabolism. J Neurol Sci 15: 49–76PubMedCrossRefGoogle Scholar
  12. Mirowitz SA, Sartor K, Prensky AJ, Gado M, Hodges FJ (1991) Neurodegenerative diseases of childhood: MR and CT evaluation. J Comput Assist Tomogr 15: 210–222Google Scholar
  13. Ogier H, Charpentier C, Saudubray JM (1989) Organic acidemias. In: Fernandes J, Saudubray JM, Tada K (eds) Inborn metabolic diseases, diagnosis and treatment. Springer, Berlin Heidelberg New York, pp 271–299Google Scholar
  14. Ohura T, Miyabayashi S, Narisawa K, Tada K (1991) Genetic heterogeneity of proionic acidemia: analysis of 15 Japanese patients. Hum Genet 87: 41–44PubMedCrossRefGoogle Scholar
  15. Ozand PT, Gascon GG (1991a) Organic acidurias: a review, part 1. J Child Neurol 6: 196–219PubMedCrossRefGoogle Scholar
  16. Ozand PT, Gascon GG (1991b) Organic acidurias: a review, part 2. J Child Neurol 6: 288–303PubMedCrossRefGoogle Scholar
  17. Rolland MO, Divry P, Mandon G, Guibaud P, Mathieu M, Sournies G, Thoulon JM (1990) Early prenatal diagnosis of propionic acidaemia with simultaneous sampling of chorionic villus and amniotic fluid. J Inherited Metab Dis 13: 345–348PubMedCrossRefGoogle Scholar
  18. Sethi KD, Ray R, Roesel RA, Carter AL, Callagher BB, Loring DW, Hommes FA (1989) Adult-onset chorea and dementia with propionic acidemia. Neurology 39: 1343–1345PubMedCrossRefGoogle Scholar
  19. Shigematsu Y, Mori I, Nakai A, Kikawa Y, Kuriyama M, Konishi Y, Fuji T, Sudo M (1990) Acute infantile hemiplegia inGoogle Scholar
  20. a patient with propionic acidaemia. Eur J Pediatr 149:659–660Google Scholar
  21. Shuman RM, Leech RW, Scott CR (1978) The neuropathology of the nonketotic and ketotic hyperglycinemias: three cases. Neurology 28: 139–146PubMedCrossRefGoogle Scholar
  22. Steinman L, Clancy RR, Cann H, Urich H (1983) The neuropathology of propionic acidemia. Dev Med Child Neurol 25: 87–94PubMedCrossRefGoogle Scholar
  23. Surtees RAH, Matthews EE, Leonard JV (1992) Neurologic outcome of propionic acidemia. Pediatr Neurol 8: 333–337PubMedCrossRefGoogle Scholar
  24. Thomas E (1992) Dietary management of inborn errors of amino acid metabolism with protein-modified diets. J Child Neurol 7 Suppl: S92–5111Google Scholar
  25. Wolf B, Hsia YE, Sweetman L, Gravel R, Harris DJ, Nyhan WL (1981) Propionic acidemia:a clinical update. J Pediatr 99: 835–846PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 1995

Authors and Affiliations

  • Marjo S. van der Knaap
    • 1
  • Jacob Valk
    • 2
  1. 1.Department of Child NeurologyFree University HospitalAmsterdamThe Netherlands
  2. 2.Department of Diagnostic RadiologyFree University HospitalAmsterdamThe Netherlands

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