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Summary
FOLATE MALABSORPTION
FOLIC ACID, TRANSPORT DEFECT INVOLVING FOLATE MALABSORPTION
229050
OMIM = Online Medalian Inheritance of Men
90045
17q11.12
  • folic acid
  • folinic acid
rare (37 cases)
autosomal recessive
mutation in the SLC46A1 gene
symptoms
anemia
ataxia
athetosis
cerebral calcifications
diarrhea
epilepsy
failure to thrive
feeding difficulties, poor feeding
heart failure
infections (severe or recurrent)
irritability
mental retardation
neutropenia (decreased neutrophils)
onset, infancy
oral ulcers
peripheral neuropathy
progressive neurologic defect
seizures
stomatitis
thrombopenia, thrombocytopenia
laboratory finding
Folate 4.1020.40decreasedserum, cerebrospinalchild
Hemoglobine8.0012.0012.0015.00g/dlblood
Orotic acid 0.0011.00increasedurine
Immunglobulin IgD decreasedserum
Sarcosine 0.0056.00increasedurine
MRI, brain, abnormalities -
5-Methyltetrahydrofolate decreasedcerebrospinal fluid
Homocysteine normal-increasedplasma
L-Methionine normal-decreasedplasma
Literature
Horvath RUpdate on clinical aspects and treatment of selected vitamin-responsive disorders II (riboflavin and CoQ 10)J Inherit Metab Dis354679-6872012
Schmidt MAet al.Familial dilated cardiomyopathyAm J Med Genet310135-1431988
Horvath RUpdate on clinical aspects and treatment of selected vitamin-responsive disorders II (riboflavin and CoQ 10)J Inherit Metab Dis354679-6872012
Byers PHDisorders of collagen biosynthesis and structureThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.31344029-40771995
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Hoffmann GFMeier-Augenstein W, St+Âckler S, Surtees R, Rating D, Nyhan WLPhysiology and Pathophysiology of Organic Acid in Cerebrospinal FluidJ Inherit Metab Dis160648-6691993
Horvath RUpdate on clinical aspects and treatment of selected vitamin-responsive disorders II (riboflavin and CoQ 10)J Inherit Metab Dis354679-6872012