CblC Type Methylmalonic Aciduria And Homocystinuria

About the Disease
Methylmalonic Aciduria and Homocystinuria, Cblc Type, also known as vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase, is related to methylmalonic aciduria and homocystinuria, cblf type and disorders of intracellular cobalamin metabolism, and has symptoms including lethargy and seizures. An important gene associated with Methylmalonic Aciduria and Homocystinuria, Cblc Type is MMACHC (Metabolism Of Cobalamin Associated C), and among its related pathways/superpathways are Disease and Metabolism. The drugs Mecobalamin and Hydroxocobalamin have been mentioned in the context of this disorder. Affiliated tissues include eye, spinal cord and kidney, and related phenotypes are intellectual disability and methylmalonic aciduria

Common Targets
PRDX1 | ABCD4 | MMACHC | SLC46A1 | MTR

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Reflex Epilepsy | Multisystemic Smooth Muscle Dysfunction Syndrome | Blastoma, Pleuropulmonary | Cardiospondylocarpofacial Syndrome | Early Infantile Epileptic Encephalopathy 13 | Glycogen Storage Disease Type 1b | Transcobalamin Deficiency | Polyradiculopathy | Panic Disorder | Cellulitis | Polymicrogyria | Follicular Dendritic Cell Sarcoma | Charcot-Marie-Tooth Disease Type 2T | Feingold Syndrome | Clouston Hidrotic Ectodermal Dysplasia | Exfoliative Dermatitis | Poirier-Bienvenu Neurodevelopmental Syndrome | Mitochondrial Encephalomyopathy | Cranial Nerve Disease | Melanocytic Nevus | Microtia | ICF Syndrome | Pulmonary Sclerosing Hemangioma | T-cell Prolymphocytic Leukemia | Polyarteritis Nodosa | Kashin-Beck Disease | Stroke | Pyloric Stenosis, Infantile Hypertrophic | Craniofacial Dysostosis | 3-hydroxy-3-methylglutaric Aciduria | Sclerosing Cholangitis | Juvenile Myelomonocytic Leukemia | Lymphoma, Mantle Cell | Metaphyseal Chondrodysplasia, Schmid Type | Hemolytic Uremic 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Variant | Kaposi Sarcoma | Trichothiodystrophy | Stuttering | Autosomal Recessive Spastic Paraplegia Type 35 | Rhabdomyosarcoma, Embryonal | Lymphangioleiomyomatosis | Polycystic Kidney, Autosomal Recessive | Crimean-Congo Hemorrhagic Fever | Colorectal Adenoma | Familial Episodic Pain Syndrome | Chromosome 16p11.2 Deletion Syndrome | Malnutrition | Prolymphocytic Leukemia | Chorea-acanthocytosis | Mesothelioma, Malignant | Pierpont Syndrome | Sensorineural Hearing Loss | Pneumococcal Meningitis | Farber Disease | Binge Eating Disorder | Hemophilia | Multiple Sclerosis, Relapsing-remitting | Smith-Kingsmore Syndrome | Arteriosclerosis | Hepatic Veno-occlusive Disease | Chronic Leukemia | Vitreoretinal Degeneration, Snowflake Type | Neuroectodermal Tumors, Primitive | Zollinger-Ellison Syndrome | Neonatal Progeroid Syndrome | Jalili Syndrome | Epidermolytic Ichthyosis, Annular | Hypothyroidism | Thromboembolism | Adenoma, Pleomorphic | Chronic Neutrophilic Leukemia | Restrictive 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