Table of Contents - #606003

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#606003 ICD+
  • SNOMEDCT: 124252008
 SNOMEDCT: 124252008
TRANSALDOLASE DEFICIENCY

Phenotype Gene Relationships
Location Phenotype Phenotype
MIM number		 Gene/Locus Gene/Locus
MIM number
11p15.5 Transaldolase deficiency 606003 TALDO1 602063

TEXT
A number sign (#) is used with this entry because transaldolase deficiency is caused by homozygous mutation in the TALDO1 gene (602063).

Clinical Features
Verhoeven et al. (2001) described deficiency of transaldolase in the first child of healthy, consanguineous Turkish parents. Soon after birth, the patient had undergone surgical correction of aortic coarctation. Within several months, she developed hepatosplenomegaly. Elevated concentrations of ribitol, D-arabitol, and erythritol were found in urine and plasma. At the age of 10 years, the patient showed many telangiectases of the skin, hepatosplenomegaly, and enlarged clitoris. She had persistent thrombocytopenia which was thought to be caused by splenic pooling due to the hepatosplenomegaly. A deficiency of transaldolase was discovered by incubating the patient's lymphoblasts and erythrocytes with ribose-5-phosphate and subsequently analyzing phosphate sugar metabolites.

Molecular Genetics
By sequence analysis of the TALDO1 gene in a patient with transaldolase deficiency, Verhoeven et al. (2001) identified a homozygous 3-bp deletion, resulting in the absence of serine at position 171 of the transaldolase protein (602063.0001).

REFERENCES
1. Verhoeven, N. M., Huck, J. H. J., Roos, B., Struys, E. A., Salomons, G. S., Douwes, A. C., van der Knaap, M. S., Jakobs, C. Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway. Am. J. Hum. Genet. 68: 1086-1092, 2001. [PubMed: 11283793, related citations] [Full Text: Elsevier Science, Pubget]

Creation Date: Victor A. McKusick : 6/12/2001
Edit History: carol : 07/12/2010
terry : 2/19/2004
carol : 6/12/2001
carol : 6/12/2001