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Summary
MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY
MCT1 GLUCOSE TRANSPORTER TYPE 1 DEFICIENCY SYNDROME (GLUT1-DS)
616095
OMIM = Online Medalian Inheritance of Men
438075
1p13.2
rare
autosomal dominant
autosomal recessive
mutation in the MCT1 gene
symptoms
dehydration
developmental delay
feeding difficulties, poor feeding
hypoglycemia
intellectual disability/intellectual developmental disorder (ID/ IDD)
ketosis, ketoacidosis
metabolic acidosis
onset, childhood
onset, infancy
tachypnea, hyperpnea, dyspnea, respiratory distress
vomiting
laboratory finding
Ketone bodies +/++urine
D-Glucose mmol/lplasma
allo-Isoleucine10.00200.00 -Ámol/lplasma
3-Hydroxybutyric acid150.00500.00 mmol/mol creatinineurine
Acetoacetic acid30.00200.00 mmol/mol creatinineurine
2-Methylacetoacetic acid normal-increasedurine
Tiglylglycine5.00500.00 mmol/mol creatinineurine
3-Hydroxybutyric acid200.00800.00 mmol/mol creatinineurine
Literature
Baker BYet al.Non-Classic Congenital Lipoid Adrenal Hyperplasia: A New Disorder of the Steroidogenic Acute Regulatory Protein With Very Late Presentation and Normal Male GenitaliaJ Clin Endocrinol Metab002006
Palermo MQuinkler M, Stewart PMApparent mineralocorticoid excess syndrome: an overviewArq Bras Endocrinol Metabol480687-6962004
Draper NStewart PM11beta-hydroxysteroid dehydrogenase and the pre-receptor regulation of corticosteroid hormone actionJ Endocrinol1860251-2712005
Bhangoo Aet al.Phenotypic features associated with mutations in steroidogenic acute regulatory protein J Clin Endocrinol Metab90116303-63092005