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Summary
TRANSALDOLASE DEFICIENCY
TALDO DEFICIENCY
606003
OMIM = Online Medalian Inheritance of Men
101028
11p15.5
very rare
autosomal recessive
mutation in the TALDO1 gene
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
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
small for gestational age (SGA), intrauterine growth retardation (IUGR)
splenomegaly (large spleen)
teleangiectasia
laboratory finding
Ribitol0.000.00 mmol/mol creatinineurine
Ribitol increasedplasma
D-Arabitol0.000.00 mmol/mol creatinineurine
D-Arabitol increasedplasma
Erythritol0.000.00 mmol/mol creatinineurine
Erythritol increasedplasma
Thrombocytes, Platelets decreasedblood
Protein, total, serum decreasedserum
Erythronic acid mmol/mol creatinineurine
Perseitol mmol/mol creatinineurine
Sedoheptulose-7-phosphate mmol/mol creatinineurine
Fumaric acid mol/mol creatinineurine
Mannoheptulose increasedurine
D-Glucose1.005.00 mmol/lserum
Ammonia +€mol/lblood
2-Oxoglutaric acid mmol/mol Creaurine
Perseitol mmol/mol creatinineurine
Sedoheptulose mmol/mol creatinineurine
Literature
Ghosh S,et al.Short chain acyl-CoA dehydrogenase deficiency and short-term high-fat diet perturb mitochondrial energy metabolism and transcriptional control of lipid-handling in liverNutr Metab (Lond)130172016
Lampret BR,et al.A case report of short-chain acyl-CoA dehydrogenase deficiency (SCADD)Biochem Med (Zagreb)252279-2842015
Van Calcar SC,et al.Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in WisconsinMol Genet Metab1101111-1152013
Edhager AV,et al.Proteomic investigation of cultivated fibroblasts from patients with mitochondrial short-chain acyl-CoA dehydrogenase deficiencyMol Genet Metab1113360-3682014
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
Tonin Ret al.Clinical relevance of short-chain acyl-CoA dehydrogenase (SCAD) deficiency: Exploring the role of new variants including the first SCAD-disease-causing allele carrying a synonymous mutationBBA Clin50114-1192016
Chanprasert S,Scaglia FAdult liver disorders caused by inborn errors of metabolism: review and updateMol Genet Metab11411-102015
Camtosun E,et al.A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical CourseJ Clin Res Pediatr Endocrinol72144-1472015
Backes JM,et al.Pseudohypertriglyceridemia: two cases of probable glycerol kinase deficiencyJ Clin Lipidol65469-4732012
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
Heslegrave AJ,Hussain KNovel insights into fatty acid oxidation, amino acid metabolism, and insulin secretion from studying patients with loss of function mutations in 3-hydroxyacyl-CoA dehydrogenaseJ Clin Endocrinol Metab982496-5012013