What is TRANSALDOLASE DEFICIENCY?

very rare autosomal recessive mutation in the TALDO1 gene

TRANSALDOLASE DEFICIENCY

Disease	TRANSALDOLASE DEFICIENCY
Synonym	TALDO DEFICIENCY
OMIM	606003 OMIM = Online Mendelian Inheritance of Men
Orphanet	101028
Protein (UniProt)	transaldolase
ExPASy	2.2.1.2
Gene locus	11p15.5
ICD	E74.8
Summary	very rare autosomal recessive mutation in the TALDO1 gene
Laboratory findings	D-Arabitol inc (urine) Sedoheptulose-7-phosphate inc (urine) 2-Oxoglutaric acid inc (urine) Ammonia normal/inc (blood) D-Arabitol inc (plasma) D-Glucose normal/dec (serum) Erythritol inc (urine) Erythritol inc (plasma) Erythronic acid inc (urine) Fumaric acid normal/inc (urine) Mannoheptulose inc (urine) Perseitol inc (urine) Protein, total dec (serum) Ribitol inc (urine) Ribitol inc (plasma) Sedoheptulose inc (urine) Thrombocytes, Platelets dec (blood) Transaminases (ASAT/ALAT) inc (serum)
Symptoms	anemia bleeding tendencies, hemorrhages cardiomyopathy cirrhosis or fibrosis of liver Coagulopathy/Coagulation factors congenital heart defect cutis laxa dysmorphism edema growth retardation, poor growth heart involvement hepatomegaly (large liver) hyperammonemia hypertension hypertrichosis hypoglycemia hypotonia intrauterine growth retardation leukoencephalopathy liver failure liver involvement or dysfunction nephrocalcinosis onset, infancy onset, neonatal pancytopenia peripheral neuropathy proteinuria renal dysfunction, renal defects renal failure, chronic small for gestational age (SGA), intrauterine growth retardation (IUGR) splenomegaly (large spleen) teleangiectasia tetralogy of fallot