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Summary
HYPERPHOSPHATASIA
JUVENILE PAGET DISEASE
239000
OMIM = Online Medalian Inheritance of Men
2801
8q24
  • disodium etidronate
rare autosomal recessive differential diagnosis: - transient hyperphosphatasemia (without clinical or radiological findings) - familial developmental retardation, facial and skeletal abnormalities and hyperphosphatasia (Rabe et al. 1991) therapy with biphosphonate ?
symptoms
bone fractures
hearing defect, deafness
limb abnormalities, limb deformities
muscle weakness
onset, childhood
pain, bones or joints
short neck
short stature
skeletal changes
X-ray, abnormalities
laboratory finding
Uric acid
Phosphatase, alkaline 20.00150.00increasedserum
Hydroxyproline0.000.0020.00320.00increasedurinenewborn
Phosphoethanolamine0.000.00 increasedurineno data
Literature
Scriver CRet al.The hyperphenylalaninemiasThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.101015-10751995
Straussberg RBrand N, Gadoth N3-Methyl glutaconic aciduria in Iraqi Jewish children may be misdiagnosed as cerebral palsyNeuropediatrics29154-561998
Hiatt HHPentosuriaThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.101001-10121995
Scriver CRet al.The hyperphenylalaninemiasThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.101015-10751995
Robinson BHLactic acidemia (disorders of pyruvate carboxylase, pyruvate dehydrogenase)The metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.101479-14991995
Tanaka KRPaglia DEPyruvate kinase and other enzymopathies of the erythrocyteThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.203485-35111995
Rotig Aet al.Mitochondrial DNA deletion in Pearson s marrow-pancreas syndromeLancet I (Letter) 00902-9031989
Scriver CRet al.The hyperphenylalaninemiasThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.101015-10751995
Robinson BHLactic acidemia (disorders of pyruvate carboxylase, pyruvate dehydrogenase)The metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.101479-14991995
Kleta Ret al.3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findingsMol Genet Metab763201-2062002