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References OMIM Gene GeneReviews HGMD HGNC
last update : 27-05-2020
Location 11p15.5
Name transaldolase deficiency
Corresponding gene TALDO1
Main clinical features
  • rare inborn error of pentose metabolism; typical features include intrauterine growth restriction, triangular vase, loose wrinkly skin at birth, and development of progressive liver failure
  • also cardiac defects, wrinkly skin, and dysmorphic facial features characterized by triangular face, low-set ears, prominent philtrum, infraorbital creases, wide mouth, and thin lips
  • hepatosplenomegaly, anemia, thrombocytopenia, cirrhosis and hepatocellular carcinoma
  • elevated concentrations of ribitol, D-arabitol, and erythritol found in urine and plasma
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/carbohydrates
    Type disease
    Gene product
    Name transaldolase 1
    Remark(s) . even within the same family, individuals with the same homozygous mutation demonstrate a wide range of phenotypes (PMID: 24097415))