Methylmalonic acidemia with homocystinuria
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| Methylmalonic acidemia with homocystinuria | |
|---|---|
| Other names | Combined defect in adenosylcobalamin and methylcobalamin synthesis, methylmalonic acidemia and homocystinemia, methylmalonic aciduria with homocystinuria.[1] |
 | |
| Skeletal formula of methylmalonic acid. | |
| Specialty | Endocrinology |
| Symptoms | Lethargy, megaloblastic anemia, failure to thrive, intellectual deficit, developmental delay, and seizures.[1] |
Methylmalonic acidemia with homocystinuria is a group of autosomal recessive inborn errors of cobalamin metabolism.[2]
Signs and symptoms
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Causes
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Genetics
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Mechanism
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Diagnosis
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Classification
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Treatment
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Outlook
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Epidemiology
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History
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See also
References
- ^ a b "Monarch Initiative". Monarch Initiative. Retrieved 2024-03-19.
- ^ Liu, Jinrong; Peng, Yun; Zhou, Nan; Liu, Xiaorong; Meng, Qun; Xu, Hui; Zhao, Shunying (2017). "Combined methylmalonic acidemia and homocysteinemia presenting predominantly with late-onset diffuse lung disease: a case series of four patients". Orphanet Journal of Rare Diseases. 12 (1). doi:10.1186/s13023-017-0610-8. ISSN 1750-1172. PMC 5360033. PMID 28327205.
Further reading
- Xu, Bei; Zhang, Lihong; Chen, Qiang; Wang, Yajuan; Peng, Yahong; Tang, Hui (2022-07-12). "Case Report: A Case of Late-Onset Combined Methylmalonic Acidemia and Hyperhomocysteinemia Induced by a Vegetarian Diet". Frontiers in Pediatrics. 10. doi:10.3389/fped.2022.896177. ISSN 2296-2360. PMC 9315243. PMID 35903162.
- Carrillo-Carrasco, Nuria; Chandler, Randy J.; Venditti, Charles P. (2011-07-12). "Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management". Journal of Inherited Metabolic Disease. 35 (1). Wiley: 91–102. doi:10.1007/s10545-011-9364-y. ISSN 0141-8955. PMC 4219318. PMID 21748409.
- Arhip, Loredana; Brox-Torrecilla, Noemi; Romero, Inmaculada; Motilla, Marta; Serrano-Moreno, Clara; Miguélez, María; Cuerda, Cristina (2024-01-20). "Late-onset methylmalonic acidemia and homocysteinemia (cblC disease): systematic review". Orphanet Journal of Rare Diseases. 19 (1). doi:10.1186/s13023-024-03021-3. ISSN 1750-1172. PMC 10799514. PMID 38245797.
External links
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- Inborn errors of metabolism
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