Allgemeines

Epidemiologie

Ätiologie

Ursächlich sind autosomal-rezessive Mutationen im Gen AASS (7q31.32), das für die Saccharopin-Dehydrogenase kodiert. Muationen im gleichen Gen sind wahrscheinlich auch verantwortlich für die Saccharopinurie.

Pathogenese

Das Enzym katalysiert die Bildung von Saccharopin aus Lysin und α-Ketoglutarat im Rahmen des Lysin-Abbaus.

Pathologie

Klinik

• Geistige Retardierung
• Krampfanfälle
• Erbrechen
• Koma

Diagnostik

Labor:

• Hyperammonämie (Lysin hemmt kompetitiv die Arginase)

Differentialdiagnosen

Therapie

Komplikationen

Prognose

Geschichte

Literatur

• Sacksteder KA, Biery BJ, Morrell JC, et al.. “Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia”. Am. J. Hum. Genet., 66:1736–43, June 2000. DOI:10.1086/302919. PMID 10775527.
• Yiannikas C, Cordato D. “Familial hyperlysinemia in a patient presenting with progressive spastic paraparesis”. Neurology, 47:846, September 1996. PMID 8797497.
• Gregory JW, Beail N, Boyle NA, Dobrowski C, Jackson P. “Dietary treatment of hyperlysinaemia”. Arch. Dis. Child., 64:716–20, May 1989. PMID 2499273.
• Cox RP, Markovitz PJ, Chuang DT. “Familial hyperlysinemias--multiple enzyme deficiencies associated with the bifunctional aminoadipic semialdehyde synthase”. Trans. Am. Clin. Climatol. Assoc., 97:69–81, 1986. PMID 3939388.
• Markovitz PJ, Chuang DT, Cox RP. “Familial hyperlysinemias. Purification and characterization of the bifunctional aminoadipic semialdehyde synthase with lysine-ketoglutarate reductase and saccharopine dehydrogenase activities”. J. Biol. Chem., 259:11643–6, October 1984. PMID 6434529.
• Dancis J, Hutzler J, Ampola MG, et al.. “The prognosis of hyperlysinemia: an interim report”. Am. J. Hum. Genet., 35:438–42, May 1983. PMID 6407303.
• Cederbaum SD, Shaw KN, Dancis J, Hutzler J, Blaskovics JC. “Hyperlysinemia with saccharopinuria due to combined lysine-ketoglutarate reductase and saccharopine dehydrogenase deficiencies presenting as cystinuria”. J. Pediatr., 95:234–8, August 1979. PMID 571908.
• Dancis J, Hutzler J, Cox RP. “Familial hyperlysinemia: enzyme studies, diagnostic methods, comments on terminology”. Am. J. Hum. Genet., 31:290–9, May 1979. PMID 463877.
• vd Heiden C, Brink M, de Bree PK, et al.. “Familial hyperlysinaemia due to L-lysine alpha-ketoglutarate reductase deficiency: results of attempted treatment”. J. Inherit. Metab. Dis., 1:89–94, 1978. PMID 116084.
• van Gelderen HH, Teijema HL. “Hyperlysinaemia. Harmless inborn error of metabolism?”. Arch. Dis. Child., 48:892–5, November 1973. PMID 4761058.
• Dancis J, Hutzler J, Cox RP, Woody NC. “Familial hyperlysinemia with lysine-ketoglutarate reductase insufficiency”. J. Clin. Invest., 48:1447–52, August 1969. DOI:10.1172/JCI106110. PMID 5796356.
• Woody NC, Ong EB. “Paths of lysine degradation in patients with hyperlysinemia”. Pediatrics, 40:986–92, December 1967. PMID 6074139.
• Armstrong MD, Robinow M. “A case of hyperlysinemia: biochemical and clinical observations”. Pediatrics, 39:546–54, April 1967. PMID 6022933.
• Ghadimi H, Zischka R, Binnington VI. “Further studies on hyperlysinemia associated with retardation”. Am. J. Dis. Child., 113:146–51, January 1967. PMID 6015892.
• Woody NC, Hutzler J, Dancis J. “Further studies of hyperlysinemia”. Am. J. Dis. Child., 112:577–80, December 1966. PMID 5928822.
• Ghadimi H, Binnington VI, Pecora P. “Hyperlysinemia associated with retardation”. N. Engl. J. Med., 273:723–9, September 1965. DOI:10.1056/NEJM196509302731401. PMID 5825685.

Weblinks

• OMIM