Visit Metagene.de!
Summary
LACTASE DEFICIENCY, CONGENITAL
DISACCHARIDE INTOLERANCE III LACTASE DEFICIENCY, PRIMARY
223000
OMIM = Online Medalian Inheritance of Men
53690
2q21.3
  • lactase enzyme preparation
  • removal of milk from the diet
rare, icreased frequency in Finland
autosomal recessive

most common form of genetically disaccharide deficiency, down-regulation of the lactase enzyme activity in the intestinal wall after weaning
symptoms
dehydration
diarrhea
metabolic acidosis
onset, neonatal
laboratory finding
Literature
Cerame BIet al.Prenatal diagnosis and treatment of 11beta-hydroxylase deficiency congenital adrenal hyperplasia resulting in normal female genitaliaJ Clin Endocrinol Metab8403129-31341999
Nasir Jet al.11 beta-hydroxylase deficiency: management of a difficult case by laparoscopic bilateral adrenalectomyClin Endocrinol (Oxf)450225-2281996
Sweetman LWilliams JCBranched chain organic aciduriasThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.101387-14491995
Baumgartner MR,et al.Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemiaOrphanet J Rare Dis901302014
Roe CRet al.2,4-Dienoyl-coenzyme A reductase deficiency: a possible new disorder of fatty acid oxidationJ Clin Invest8501703-17071990
Meyers RLGrua JRBilateral laparoscopic adrenalectomy: a new treatment for difficult cases of congenital adrenal hyperplasiaJ Pediatr Surg3501586-15902000
Helander HMet al.Molecular cloning and characterization of the human mitochondrial 2,4-dienoyl-CoA reductase gene (DECR)Genomics461112-1191997
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Trefz FKCipcic-Schmidt S, Koch RFinal intelligence in late treated patients with phenylketonuriaEur J Pediatr Suppl 21590145-1482000
Charbit-Henrion F,et al.Early and late complications after liver transplantation for propionic acidemia in children: a two centers studyAm J Transplant153786-7912015
Scriver CRGibson KMDisorders of beta and gamma-amino acids in free and peptide-linked formsThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.101349-13681995