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Summary
LACTOSE INTOLERANCE, ADULT TYPE
HYPOLACTASIA, ADULT TYPE
223100
OMIM = Online Medalian Inheritance of Men
2p12.3
autosomal dominant
Lactase non-persistence (adult-type hypolactasia) is present in more than half of the human population and is caused by the down-regulation of lactase enzyme activity during childhood [J+├▒rvel+├▒ I 2009]
symptoms
diarrhea
flatulence
onset, adolescent
onset, childhood
onset, infancy
pain, abdominal
laboratory finding
D-Lactose1000.002000.00 mmol/mol creatinineurine
Literature
Reuben A,et al.The hemochromatosis protein HFE 20 years later: An emerging role in antigen presentation and in the immune systemImmun Inflamm Dis53218-2322017
De Gobbi M,et al.Natural history of juvenile haemochromatosisBr J Haematol1174973-9792002
Baumgartner MR,et al.Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemiaOrphanet J Rare Dis901302014
Charbit-Henrion F,et al.Early and late complications after liver transplantation for propionic acidemia in children: a two centers studyAm J Transplant153786-7912015