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Summary
LACTOSE INTOLERANCE
LACTOSE INTOLERANCE, CONGENITAL
150220
OMIM = Online Medalian Inheritance of Men
unknown
rare autosomal dominant transport defect of the gastric mucosa (?)
symptoms
Amino acids, urine
cataract
dehydration
failure to thrive
liver involvement (acute, chronic, hepatitis)
onset, newborn
renal tubular acidosis
tubulopathy
vomiting
laboratory finding
Lactose0.000.00 increasedurineno data
pH7.207.307.357.45no unitblood
Literature
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
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Nuoffer JMet al.Familial neonatal SIDS revealing carnitine-acylcarnitine transloscase deficiencyEur J Pediatr159082-852000