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Summary
METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT
METHYLMALONIC ACIDEMIA, TCblR TYPE TC RECEPTOR DEFECT
613646
OMIM = Online Medalian Inheritance of Men
280183
rare (~10 cases)
autosomal recessive
mutation in the gene encoding the transcobalamin receptor CD320
often detected on newborn screen
The long-term effects of this condition are yet to be unraveled, but TCblR defects should be considered in individuals with elevated blood and urine MMA who do not have other defects in Cbl metabolism [Quadros et al. 2010]
symptoms
no consistent clinical signs or symptoms
onset, infancy
retinal artery occlusions
laboratory finding
Methylmalonic acid50.00150.00 mmol/mol creatinineurine
Methylmalonic acid increasedserum
Homocysteine increasedserum
Propionylcarnitine (C3) increasedblood
Literature
Fern+índez-+ülvarez S,et al.TRAIL-producing NK cells contribute to liver injury and related fibrogenesis in the context of GNMT deficiencyLab Invest. 2015 Feb95(2):223-36.952223-2362015
Clemente MG,et al.Pediatric non-alcoholic fatty liver disease: Recent solutions, unresolved issues, and future research directionsWorld J Gastroenterol22368078-80932016
Mameli C,et al.An update on the assessment and management of metabolic syndrome, a growing medical emergency in paediatric populationsPharmacol Res119099-1172017