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Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway.
- Source :
-
American journal of human genetics [Am J Hum Genet] 2001 May; Vol. 68 (5), pp. 1086-92. Date of Electronic Publication: 2001 Mar 27. - Publication Year :
- 2001
-
Abstract
- This article describes the first patient with a deficiency of transaldolase (TALDO1 [E.C.2.2.1.2]). Clinically, the patient presented with liver cirrhosis and hepatosplenomegaly during early infancy. In urine and plasma, elevated concentrations of ribitol, D-arabitol, and erythritol were found. By incubating the patient's lymphoblasts and erythrocytes with ribose-5-phosphate and subsequently analyzing phosphate sugar metabolites, we discovered a deficiency of transaldolase. Sequence analysis of the transaldolase gene from this patient showed a homozygous deletion of 3 bp. This deletion results in absence of serine at position 171 of the transaldolase protein. This amino acid is invariable between species and is located in a conserved region, indicating its importance for enzyme activity. The detection of this new inborn error of pentose metabolism has implications for the diagnostic workup of liver problems of unknown etiology.
- Subjects :
- Amino Acid Sequence
Base Sequence
Child
Child, Preschool
Conserved Sequence genetics
Erythrocytes metabolism
Female
Homozygote
Humans
Infant, Newborn
Liver pathology
Liver Cirrhosis metabolism
Lymphocytes metabolism
Male
Metabolism, Inborn Errors metabolism
Molecular Sequence Data
Pentoses blood
Pentoses urine
RNA, Messenger genetics
RNA, Messenger metabolism
Ribosemonophosphates metabolism
Sequence Deletion genetics
Spleen pathology
Sugar Alcohols blood
Sugar Alcohols urine
Transaldolase genetics
Transaldolase metabolism
Transketolase metabolism
Liver Cirrhosis enzymology
Liver Cirrhosis genetics
Metabolism, Inborn Errors enzymology
Metabolism, Inborn Errors genetics
Pentose Phosphate Pathway genetics
Transaldolase deficiency
Subjects
Details
- Language :
- English
- ISSN :
- 0002-9297
- Volume :
- 68
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- American journal of human genetics
- Publication Type :
- Academic Journal
- Accession number :
- 11283793
- Full Text :
- https://doi.org/10.1086/320108