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Summary
WOLFRAM SYNDROME, DIDMOAD
DIABETES MELLITUS AND INSIPIDUS WITH OPTIC ATROPHY AND DEAFNESS
222300
OMIM = Online Medalian Inheritance of Men
3463
4p16.1
  • desmopressin (DDAVP)
  • insulin
rare (1:770.000 UK)
autosomal recessive
symptoms
anemia
ataxia
behavior, abnormal or bizarre, confusion
diabetes insipidus
diabetes mellitus
early death
hearing defect, deafness
hydronephrosis
hyperglycemia
ketosis
optic atrophy
polydipsia (increased drinking)
polyuria
psychosis
retinopathy
seizures
urinary tract defects
laboratory finding
Glucose 3.305.50increasedblood
Ketone bodies +/++/+++urine
Osmolality 275.00295.00increasedserum
Osmolality 50.001400.00decreasedurine
Literature
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Vassault ABonnefort JP, Specola N, Saudubray LMLactate, Pyruvate, and Ketone BodiesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00285-3081991
Sweetman LWilliams JCBranched chain organic aciduriasThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.101387-14491995
Zinn ABKerr DS, Hoppel CLFumarase dificiency: a new cause of mitochondrial encephalomyopathyN Engl J Med3150469-4751986
Whelan DTHill RE, McClorry SFumaric aciduria: a new organic aciduria, associated with mental retardation and speech improvementClin Chim Acta1320301-3081983
Shoffner JMWallace DCOxidative phosphorylation diseasesThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.1461535-16091995
Leonard JVUrea cycle disordersin Fernandes J, Saudubray JM, van den Berghe (eds): Inborn metabolic diseases, diagnosis and treatment Berlin, Springer Verlag00167-1761996
Kelley RIQuantification of pipecolic acid in plasma and urine by isotope-dilution gas chromatography/mass spectrometryTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York014205-2481991
Munnich Aet al.Clinical presentations and laboratory invetstigations in respiratory chain deficiencyEur J Pediatr1550262-2741996
Gitzelmann RSteinmann B, van den Berghe GDisorders of fructose metabolismThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.10905-9341995
Wolman MWolman disease and its treatmentClin Pediatr Phila340207-2121995
Lindell ADenneberg T, Jeppson JOUrinary excretion of free cystine and the tiopronin-cysteine-mixed disulfide during long term tiopronin treatment of cystinuriaNephron713328-3421995
Munnich Aet al.Clinical presentations and laboratory invetstigations in respiratory chain deficiencyEur J Pediatr1550262-2741996
Rosenblatt DSInherited disorders of folate transport and metabolismThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.203111-31281995
Sweetman LWilliams JCBranched chain organic aciduriasThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.101387-14491995
Thomas GHBeaudet ALDisorders of glycoprotein degradation and structure: alpha-mannosidosis, beta-mannosidosis, fucosidosis, sialidosis, aspartylglucosminuria and carbohydrate- deficient glycoprotein syndromeThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.202529-25611995