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Summary
PRIMARY HYPOMAGNESEMIA
MAGNESIUM, DEFECT IN RENAL TUBULAR TRANSPORT OF
248250
OMIM = Online Medalian Inheritance of Men
31043
3q27
  • magnesium
rare autosomal recessive
symptoms
behavior, hyperactive, restless
chorioretinitis
corneal deposits
diarrhea
edema
feeding difficulties, poor feeding
hearing defect, deafness
hypotonia
irritability
muscle weakness
nephrocalcinosis
onset, infancy
onset, neonatal
opisthotonus
renal failure, acute/chronic
seizures
stridor
tetany
tremor or twitching
laboratory finding
Magnesium0.150.300.701.00mmol/lserum
Calcium1.201.602.102.65mmol/lserum
Phosphorus, inorganic 1.602.60increasedserum
Albumin 25.0034.00decreasedplasma
Calcium0.000.00 decreasedurineno data
Literature
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Cromby CHManning NJ, Pollitt RJ, Powell S, Bennett MJ6-Methyluracil excretion in 2-Methylacetoacetyl-CoA Thiolase Deficiency and in 2 Children with Inexplained Recurrent KetoacidemiaJ Inherit Metab Dis17081-841994
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Brusilow SWHorwich ALUrea cycle enzymesThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.101187-12321995
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
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996