Fumarylacetoacetase pseudodeficiency

MedGen UID:: 865779
•Concept ID:: C4017342
•: Finding

Synonym:	FUMARYLACETOACETASE PSEUDODEFICIENCY

OMIM®:	613871

Recent clinical studies

Etiology

Hereditary tyrosinemia type I: lack of correlation between clinical findings and amount of immunoreactive fumarylacetoacetase protein.

Kvittingen EA, Rootwelt H, van Dam T, van Faassen H, Berger R
Pediatr Res 1992 Jan;31(1):43-6. doi: 10.1203/00006450-199201000-00008. PMID: 1594329

Prenatal diagnosis of hereditary tyrosinemia by determination of fumarylacetoacetase in cultured amniotic fluid cells.

Kvittingen EA, Steinmann B, Gitzelmann R, Leonard JV, Andria G, Børresen AL, Mossman J, Micara G, Lindblad B
Pediatr Res 1985 Apr;19(4):334-7. doi: 10.1203/00006450-198519040-00002. PMID: 4000758

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Diagnosis

Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I.

Rootwelt H, Brodtkorb E, Kvittingen EA
Am J Hum Genet 1994 Dec;55(6):1122-7. PMID: 7977370 Free PMC Article

Tyrosinaemia type I--an update.

Kvittingen EA
J Inherit Metab Dis 1991;14(4):554-62. doi: 10.1007/BF01797926. PMID: 1749221

Prenatal diagnosis of hereditary tyrosinemia by determination of fumarylacetoacetase in cultured amniotic fluid cells.

Kvittingen EA, Steinmann B, Gitzelmann R, Leonard JV, Andria G, Børresen AL, Mossman J, Micara G, Lindblad B
Pediatr Res 1985 Apr;19(4):334-7. doi: 10.1203/00006450-198519040-00002. PMID: 4000758

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Clinical prediction guides

Concentrations of succinylacetone after homogentisate and tyrosine loading in healthy individuals with low fumarylacetoacetase activity.

Kvittingen EA, Leonard JV, Pettit BR, King GS
Clin Chim Acta 1985 Nov 15;152(3):271-9. doi: 10.1016/0009-8981(85)90102-0. PMID: 4064334

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Fumarylacetoacetase pseudodeficiency

Recent clinical studies

Etiology

Diagnosis

Clinical prediction guides

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