geoscience.net logo
+ Resolve Article
+ Follow Us
Follow on FacebookFollow on Facebook
Follow on TwitterFollow on Twitter

+ Translate
+ Subscribe to Site Feed
GeoScience Most Shared ContentMost Shared Content

A novel mutation in LMBRD1 causes the cblF defect of vitamin B(12) metabolism in a Turkish patient


, : A novel mutation in LMBRD1 causes the cblF defect of vitamin B(12) metabolism in a Turkish patient. Journal of Inherited Metabolic Disease 33(1): 17-24

In the cblF defect of vitamin B(12) (cobalamin) metabolism, cobalamin is trapped in lysosomes. Consequently, cobalamin coenzyme synthesis is blocked, and cofactors for methionine synthase and methylmalonyl-coenzyme A (CoA) mutase are deficient. We recently identified LMBRD1 as the causative gene located on chromosome 6q13 and showed that 18 out of 24 alleles in unrelated patients carried the deletion c.1056delG (p.L352fsX18) (Rutsch et al. (Nat Genet 41:234-239, 2009). LMBRD1 encodes the lysosomal membrane protein LMBD1, which presumably facilitates lysosomal cobalamin export. Our patient is the second child of consanguineous Turkish parents. He presented on the second day of life with cerebral seizures due to intraventricular hemorrhage. Plasma homocysteine and urinary methylmalonic acid levels were elevated, and serum cobalamin level was decreased. Synthesis of both cobalamin coenzymes was deficient in cultured skin fibroblasts. The cblF defect was confirmed by somatic complementation analysis. Sequencing of LMBRD1 revealed the novel deletion c.1405delG (p.D469fsX38) on both alleles. Real-time polymerase chain reaction (PCR) revealed reduced messenger RNA (mRNA) levels in patient fibroblasts compared with controls. Transfection of patient fibroblasts with the LMBD1 wild-type complement DNA (cDNA) rescued coenzyme synthesis and function, confirming this new deletion as an additional cause of the cblF defect. This case adds to the spectrum of clinical presentations and mutations of this rare disorder of lysosomal transport.

US$19.90

PMID: 20127417

DOI: 10.1007/s10545-009-9032-7


Other references

Momoi, H.; Ikomi, F.; Ohhashi, T., 2003: Estrogen-induced augmentation of endothelium-dependent nitric oxide-mediated vasodilation in isolated rat cerebral small arteries. We examined chronic effects of 17beta-estradiol (E(2)beta) on the responses of isolated rat anterior cerebral small arteries to vasoactive substances with special reference to endothelial function. Female Sprague-Dawley rats were separated into fo...

Overton, K.L., 1971: A quality control program using the Coulter Counter Model S. American Journal of Medical Technology 37(6): 235-239

Caba-Doussoux, P.; Leon-Baltasar, J.Luis.; Garcia-Fuentes, C.; Resines-Erasun, C., 2013: Damage control orthopaedics in severe polytrauma with femur fracture. To evaluate the rate of systemic complications and mortality in severe polytrauma patients with associated femur fracture treated by early external fixation of femur. We made a retrospective cohort study with forty-one adult multitrauma patients (...

Shareghi, G.R.; Agus, Z.S., 1982: Phosphate transport in the light segment of the rabbit cortical collecting tubule. The mode and mechanism of phosphate transport in the light portion of the rabbit cortical collecting duct were studied with isolated tubular perfusion. Control studies (n = 48) revealed a mean transepithelial potential difference (PD) of -16.5 +/-...

Ying C.C., 1991: Performance of lodgepole pine provenances at sites in southwestern british columbia. Testing of 58 seed sources of Pinus contorta Dougl. at three locations over a 15-year period revealed the impact of both seed source and planting site, and their interaction. Site differences in total height varied from 270 cm to 493 cm, and 63% o...

Nasser, M.; Katzman, M., 1999: Eating disorders: transcultural perspectives inform prevention. This chapter argues that culture impacts not only the expression of appetite disorders but the development of neurosis in general. It points out that changes in society result in altered expressions of distress and variations on its relief (both m...

Mendez, M.F.; Owens, E.M.; Reza Berenji, G.; Peppers, D.C.; Liang, L-Jung.; Licht, E.A., 2013: Mild traumatic brain injury from primary blast vs. blunt forces: post-concussion consequences and functional neuroimaging. Primary blast forces may cause dysfunction from mild traumatic brain injury (mTBI). To investigate the effects of primary blast forces, independent of associated blunt trauma and post-traumatic stress disorder, on sensitive post-concussive measure...

Schulmeister, T.; Pfeiffer, D., 1993: Mathematical modelling of amperometric enzyme electrodes with perforated membranes. A mathematical model of a modified amperometric enzyme electrode based on a multilayer enzyme membrane has been investigated. The model describes different facilities to extend the linear concentration range of multilayer membrane electrodes as co...

Haddad; Pinho; Salinas, 2000: Universal critical behavior of aperiodic ferromagnetic models. We investigate the effects of geometric fluctuations, associated with aperiodic exchange interactions, on the critical behavior of q-state ferromagnetic Potts models on generalized diamond hierarchical lattices. For layered exchange interactions a...

Metwally, M.A.; E.Y.zal, M.N.S.; Mahrous, F.N., 1984: Effect of irrigation regimes and nitrogen fertilizer on sesame. Sesame cv. Giza 25 grown on clay loam at Sakha and Giza in 1978 and 1979 and irrigated at 20, 50 or 80% of available soil moisture depletion was treated with 15, 30, 45 or 60 kg N/feddan. Highest seed yield and oil production was obtained at both...