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Summary
WOLFRAM SYNDROME 1 (WFS1)
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
behavior, anxiety
cardiomyopathy
diabetes insipidus
diabetes mellitus
dysarthria
dysphagia
early death
growth retardation
hearing defect, deafness
hydronephrosis
hyperglycemia
ketosis, ketoacidosis
nystagmus
optic atrophy
polydipsia (increased drinking)
polyuria
psychosis
ptosis (drooping eyelid)
retinopathy
seizures
strokelike episodes
tremor or twitching
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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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
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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
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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
Noone D,Licht CAn update on the pathomechanisms and future therapies of Alport syndromePediatr Nephrol2871025-10362013
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
Pierides A,et al.X-linked, COL4A5 hypomorphic Alport mutations such as G624D and P628L may only exhibit thin basement membrane nephropathy with microhematuria and late onset kidney failure.Hippokratia173207-2132013
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