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Summary
LACTASE DEFICIENCY, CONGENITAL
DISACCHARIDE INTOLERANCE II
223000
OMIM = Online Medalian Inheritance of Men
53690
2q21
  • lactase enzyme preparation
  • removal of milk from the diet
rare, more frequent in Finland (42 cases) autosomal recessive Congenital lactose intolerance (MIM 150220) is probably a different disorder, symptoms occur with lactose ingestion
symptoms
dehydration
diarrhea
failure to thrive
metabolic acidosis
nephrocalcinosis
onset, neonatal
pain, abdominal
laboratory finding
Lactose large amountsstool
Calcium2.403.202.102.65mmol/lserum
Lactase decreased activityjejunal mucosa
Literature
Aynsley-Green Aet al.Isolated ACTH deficiency: metabolic and endocrine studies in a 7 year old boyArch Dis Child530499-5021978
Meyers RLGrua JRBilateral laparoscopic adrenalectomy: a new treatment for difficult cases of congenital adrenal hyperplasiaJ Pediatr Surg3501586-15902000
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Warinner SAet al.Study of three patients with congenital adrenal hyperplasia treated by bilateral adrenalectomyWorld J Surg2401347-13522000
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994