Abstract
Combined methylmalonic acidemia and homocystinuria is a rare congenital disease characterized by abnormal organic acid metabolism. The cblC type is the most common clinical type of this disease, and it’s a multisystem disease caused by restricted intestinal absorption of vitamin B12 resulting from transcobalamin II deficiency [1]. Its main clinical manifestations are impairments in the nervous system, the kidneys, and the blood system. Changes in the macula as a concomitant condition have not received due attention. A typical pedigree will be demonstrated in this section, and we can see the completely different prognoses resulting from different treatment timings.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Carrillo CN, Chandler RJ, Venditti CP. Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management. J Inherit Metab Dis. 2012;35(1):91–102.
Lerner-Ellis JP, Tirone JC, Pawelek PD, et al. Identification of the gene responsible for methylmalonic aciduria and homocystinuria,cb1C type. Nat Genet. 2006;38(1):93–100.
Wang F, Han L, Yang Y, et al. Clinical, biochemical, and molecular analysis of combined methylmalonic acidemia and hyperhomocysteinemia (cblC type) in China. J Inherit Metab Dis. 2010;33(Suppl 3):S435–42.
Liu MY, Yang YY, Chiang SH, et al. Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria. J Hum Genet. 2010;55(9):621–6.
Nuria CC, Charles PV. Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes. J Inherit Metab Dis. 2012;35(1):103–14.
Maestro de las Casas C, Epeldegui M, Tudela C, et al. High exogenous homocysteine modifies eye development in early chick embryos. Birth Defects Res A Clin Mol Teratol. 2003;67(1):35–40.
Gaillard MC, Matthieu JM, Borruat FX. Retinal dysfunction in combined methylmalonic aciduria and homocystinuria (cblC) disease: a spectrum of disorders. Klin Monatsbl Augenheilkd. 2008;225(5):491–4.
Schimel AM, Mets MB. The natural history of retinal degeneration in association with cobalamin C (cbl C) disease. Ophthalmic Genet. 2006;27(1):9–14.
Andersson HC, Shapira E. Biochemical and clinical response to hydroxocobalamin versus cyanocobalamin treatment in patients with methylmalonic academia and homocystinuria (cblC). J Pediatr. 1998;132(1):121–4.
Leah R, Matthieu R, Isabelle IM, et al. Ocular manifestations of cobalamin C type methylmalonic aciduria with homocystinuria. J AAPOS. 2012;16(4):370–5.
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2019 Springer Nature Singapore Pte Ltd. & People's Medical Publishing House, PR of China
About this chapter
Cite this chapter
Fan, N., Liu, X., Wang, J. (2019). The Fundus Appearance of Methylmalonic Acidemia Combined with Homocystinuria. In: Wang, N., Liu, X., Fan, N. (eds) Optic Disorders and Visual Field. Advances in Visual Science and Eye Diseases, vol 2. Springer, Singapore. https://doi.org/10.1007/978-981-13-2502-1_20
Download citation
DOI: https://doi.org/10.1007/978-981-13-2502-1_20
Published:
Publisher Name: Springer, Singapore
Print ISBN: 978-981-13-2501-4
Online ISBN: 978-981-13-2502-1
eBook Packages: MedicineMedicine (R0)