@article {609,
	title = {Apparent Acetaminophen Toxicity in a Patient with Transaldolase Deficiency.},
	journal = {JIMD Rep},
	volume = {44},
	year = {2019},
	month = {2019},
	pages = {9-15},
	abstract = {<p>Transaldolase deficiency (MIM$\#$: 606003) is a rare autosomal recessive defect in the pentose phosphate pathway. Affected individuals are at risk for progressive liver failure and hepatocarcinoma. In the transaldolase-deficient mouse model (Taldo1 ), these hepatic complications are accentuated by oxidative stress related to acetaminophen administration. We report a 13-month-old transaldolase-deficient male who developed mild liver failure after receiving standard doses of acetaminophen during a febrile respiratory syncytial virus infection. He was admitted for respiratory distress with neutropenia and thrombocytopenia, but developed an enlarged nodular liver with accompanying splenomegaly and rising alpha-fetoprotein which peaked 2 weeks after acetaminophen exposure. Whole exome sequencing revealed compound heterozygous variants c.512_514delCCT (p.Ser171del) and c.931G~>~T (p.Gly311Trp) in TALDO1 (HGNC:11559), which encodes transaldolase (EC 2.2.1.2), a key enzyme in ribose metabolism. Urine polyols and plasma metabolomics confirmed the diagnosis of transaldolase deficiency. Studies on the Taldo1  mouse model demonstrate acetaminophen-induced liver failure can be prevented by administration of the antioxidant N-acetylcysteine. Moreover, a published report showed treatment of a transaldolase-deficient patient with N-acetylcysteine was associated with a decrease in alpha-fetoprotein levels. After discontinuation of acetaminophen and prior to initiation of N-acetylcysteine treatment, our patient demonstrated resolving alpha-fetoprotein levels suggesting acetaminophen incited the liver failure. Conclusion: Our observations support the conclusion from mouse model studies that transaldolase-deficient patients are uniquely sensitive to acetaminophen and should avoid this antipyretic. Recognition of this individualized toxicity and avoidance of acetaminophen are essential for management of these patients.</p>},
	issn = {2192-8304},
	doi = {10.1007/8904_2018_116},
	author = {Lee-Barber, Jasmine and English, Taylor E and Britton, Jacquelyn F and Sobreira, Nara and Goldstein, Jason and Valle, David and Bjornsson, Hans Tomas}
}
