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.
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© 2019 Springer Nature Singapore Pte Ltd. & People's Medical Publishing House, PR of China
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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
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DOI: https://doi.org/10.1007/978-981-13-2502-1_20
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