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Summary
TRANSALDOLASE DEFICIENCY
TALDO DEFICIENCY
606003
OMIM = Online Medalian Inheritance of Men
101028
11p15.5
very rare
autosomal recessive
symptoms
bleeding tendencies, hemorrhages
cardiomyopathy
cirrhosis or fibrosis of liver
cutis laxa
dysmorphism
edema
growth retardation
hepatomegaly (large liver)
hyperammonemia
hypoglycemia
hypotonia
liver failure
liver involvement (acute, chronic, hepatitis)
onset, infant
splenomegaly (large spleen)
teleangiectasia
laboratory finding
Ribitol0.000.00 increasedurineno data
Ribitol increasedplasma
D-Arabitol0.000.00 increasedurineno data
D-Arabitol increasedplasma
Erythritol0.000.00 increasedurineno data
Erythritol increasedplasma
Thrombocytes, Platelets decreasedblood
Coagulopathy/Coagulation factors abnormalplasma
Protein, total, serum decreasedserum
Literature
Tang NLet al.Primary plasmalemmal carnitine transporter defect manifested with dicarboxylic aciduria and impaired fatty acid oxidationJ Inherit Metab Dis214423-4251998
Blau NBarnes I, Dhondt JLInternational database of tetrahydrobiopterin deficienciesJ Inherit Metab Dis1908-141996
Smelt AHet al.Very long chain acyl-CoA dehydrogenase deficiency with adult onsetAnn Neurol434540-5441998
Blau NBarnes I, Dhondt JLInternational database of tetrahydrobiopterin deficienciesJ Inherit Metab Dis1908-141996
Janecke ARet al.Molecular diagnosis of type 1c glycogen storage diseaseHum Genet1040275-2771999