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TRANSALDOLASE DEFICIENCY

TRANSALDOLASE DEFICIENCY
TALDO DEFICIENCY
606003
OMIM = Online Mendelian Inheritance of Men
101028
transaldolase
2.2.1.2
11p15.5
E74.8
very rare
autosomal recessive
mutation in the TALDO1 gene
Laboratory findingsD-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