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Summary
METHIONINE MALABSORPTION
SMITH-STRANG DISEASE OASTHOUSE URINE DISEASE
250900
OMIM = Online Medalian Inheritance of Men
very rare
symptoms
blue eyes
diarrhea
fair (white) hair
mental retardation
oast-house odor
onset, infancy
seizures
tachypnea, hyperpnea, dyspnea, respiratory distress
unusual odor / odour
laboratory finding
EEG abnormalities -
2-Hydroxybutyric acid0.000.000.002.00increasedurineinfancy
2-Oxobutyric acid0.000.00 increasedurineno data
Literature
Ohsugi Ket al.Enzymatic corrections for cells derived from Fabry disease patients by a recombinant adenovirus vectorJ Hum Genet4501-52000
Danpure CJPurdue PEPrimary hyperoxaluriaThe Metabolic and Molecular Bases of Inherited Disease on CD-ROM The McGraw-Hill Companies001997
Fenton WARosenberg LEInherited disorders of cobalamin 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.203129-32491995
Meister ALarsson AGlutathione synthetase deficiency and other disorders of the gamma-glutamyl cycleThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.101461-14771995