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Summary
MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY
MCT1
616095
OMIM = Online Medalian Inheritance of Men
438075
1p13.2
rare
autosomal dominant
autosomal recessive
symptoms
dehydration
feeding difficulties, poor feeding
hypoglycemia
ketosis, ketoacidosis
metabolic acidosis
onset, childhood
onset, infancy
tachypnea, hyperpnea, dyspnea, respiratory distress
vomiting
laboratory finding
Ketone bodies increasedurine
Glucose normal-decreasedblood
allo-Isoleucine increasedplasma
3-Hydroxybutyric acid increasedurine, plasma
Acetoacetic acid increasedurine
2-Methylacetoacetic acid normal-increasedurine
Tiglylglycine normal-increasedurine
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