TY - JOUR
T1 - Transaldolase deficiency
T2 - Liver cirrhosis associated with a new inborn error in the pentose phosphate pathway
AU - Verhoeven, Nanda M.
AU - Huck, Jojanneke H.J.
AU - Roos, Birthe
AU - Struys, Eduard A.
AU - Salomons, Gajja S.
AU - Douwes, Adriaan C.
AU - Van der Knaap, Marjo S.
AU - Jakobs, Cornelis
PY - 2001
Y1 - 2001
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0035003094&partnerID=8YFLogxK
U2 - https://doi.org/10.1086/320108
DO - https://doi.org/10.1086/320108
M3 - Article
C2 - 11283793
SN - 0002-9297
VL - 68
SP - 1086
EP - 1092
JO - American journal of human genetics
JF - American journal of human genetics
IS - 5
M1 - 61217
ER -