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Summary
GLUT-1 DEFICIENCY SYNDROME
Solute carrier family 2, facilitated glucose transporter member 1
606777
OMIM = Online Medalian Inheritance of Men
71277
1p34.2
  • ketogenic diet
rare
autosomal dominant
autosomal recessive
symptoms
ataxia
dysarthria
dystonia
eye movements, abnormal
hyperreflexia
hypoglycorrachia
hypotonia
learning disability
lethargy, drowsiness, malaise or sleep disorder
mental retardation
microcephaly
myoclonus
onset, infant
seizures
laboratory finding
Glucose 3.305.50normalserum
EEG abnormalities -
Lactate 0.502.10low-to-normalspinal fluid
Glucose decreasedspinal fluid
Glucose0.000.00 increasedurineno data
Literature
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Lachman RSSkeletal dysplasiasin Hooshang Taybi, RS Lachman Radiology of syndromes, metabolic disorders, and skeletal dysplasias 4th. edition, Mosby Year book, Inc.00475-9511996
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Byers PHDisorders of collagen biosynthesis and structureThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.31344029-40771995
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