Results 131 to 140 of about 19,626,692 (182)

Cobalamin C deficiency: a rare but treatable genetic cause of pulmonary hypertension

Orphanet Journal of Rare Diseases
Julien Grynblat, Florence Coulet, David Montani   +2 more
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Late-onset cobalamin C disease: rare but treatable

Practical Neurology, 2022
Cobalamin C disease is the most common inborn error of cobalamin metabolism, resulting from mutations in methylmalonic aciduria and homocystinuria type C protein (MMACHC) gene. There is associated elevation of homocysteine and methylmalonic acid and decreased synthesis of methionine.
Aminu Aliyar, Mounika Endrakanti, Rajesh K Singh, Arunmozhimaran Elavarasi, Neerja Gupta, Deepti Vibha, Manjari Tripathi   +6 more
openaire   +2 more sources

Spectrum of ocular manifestations in cobalamin C and cobalamin A types of methylmalonic acidemia

Ophthalmic Genetics, 2016
Cobalamin C disease (cblC), which leads to methylmalonic acidemia with homocystinuria, is the most common inherited disorder of vitamin B12 metabolism. Reported ocular findings associated with cblC have been maculopathy, pigmentary retinopathy, and optic nerve atrophy.
Cristy A, Ku, Jacqueline K, Ng, Daniel J, Karr, Leah, Reznick, Cary O, Harding, Richard G, Weleber, Mark E, Pennesi   +6 more
openaire   +2 more sources

Prenatal and postnatal treatment in cobalamin C defect

The Journal of Pediatrics, 2005
To evaluate prenatal treatment with hydroxycobalamin (OH-Cbl) in a pregnancy at risk for a severe form of the cobalamin C defect and postnatal treatment of the affected child.Observational study with non-randomized intervention.In contrast to reported pregnancies with affected fetuses in which maternal methylmalonic aciduria was found in the last ...
Huemer, Martina, Simma, Burkhard, Fowler, Brian, Suormala, Terttu, Bodamer, Olaf A., Sass, Jörn Oliver   +5 more
openaire   +3 more sources

Cobalamin C deficiency complicated by an atypical glomerulopathy

Pediatric Nephrology, 2002
Cobalamin C (cbl C) deficiency, an inherited disorder of vitamin B12 metabolism, causes elevated levels of methylmalonic acid and homocysteine and decreased methionine in all body fluids. Renal complications of cbl C disease are thrombotic microangiopathy (TMA), chronic renal failure, tubulointerstitial nephritis and proximal renal tubular acidosis ...
Steven M, Brunelli, Kevin E C, Meyers, Marta, Guttenberg, Paige, Kaplan, Bernard S, Kaplan   +4 more
openaire   +2 more sources

COBALAMIN C DISEASE PRESENTING WITH HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS

Pediatric Hematology and Oncology, 2005
Cobalamin C disease is a rare genetic condition resulting in methylmalonic aciduria, homocystinuria, and hematologic abnormalities. Clinical characteristics include ophthalmologic findings and neurological abnormalities, such as microcephaly, seizure, and mental retardation.
Susan, Wu, Ignacio, Gonzalez-Gomez, Thomas, Coates, Shoji, Yano   +3 more
openaire   +2 more sources

Cobalamin C Defect Presenting With Isolated Pulmonary Hypertension

Pediatrics, 2013
Cobalamin C (cblC) defect is the most common inborn error of vitamin B12 metabolism. Clinical features vary as does the severity of the disease. In most cases, the clinical symptoms of cblC defect tend to appear during infancy or early childhood as a multisystem disease with severe neurologic, ocular, hematologic, renal, and gastrointestinal signs. The
Iodice, Francesca G., Chiara, Luca Di, Boenzi, Sara, Aiello, Chiara, Monti, Lidia, COGO, Paola, Dionisi Vici, Carlo   +6 more
openaire   +3 more sources

Late‐onset cobalamin‐C disorder: A challenging diagnosis

American Journal of Medical Genetics Part A, 2007
AbstractCobalamin‐C (cblC) disease is a rare autosomal recessive disorder due to defective intracellular cobalamin metabolism. There are few (13) reported patients of the late‐onset presentation of cblC disease with paucity of detailed clinical descriptions. This results in this condition being easily missed.
Tawfeg I, Ben-Omran, Hubert, Wong, Susan, Blaser, Annette, Feigenbaum   +3 more
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Optic atrophy in association with cobalamin C (cblC) disease

Ophthalmic Genetics, 2000
To report the association of optic atrophy with cobalamin C (cblC) disease.Descriptive case reports on three patients, two of whom were siblings.All three patients with cblC disease exhibited bilateral optic atrophy with decreased visual acuity. Of the two siblings, the younger sister had received cobalamin supplements from birth and the mother had ...
N, Patton, S, Beatty, I C, Lloyd, J E, Wraith   +3 more
openaire   +2 more sources

Glutathione metabolism in cobalamin deficiency type C (cblC)

Journal of Inherited Metabolic Disease, 2013
AbstractBackgroundMethylmalonic aciduria with homocystinuria, cblC defect, is the most frequent disorder of vitamin B12 metabolism. CblC patients are commonly treated with a multidrug therapy to reduce metabolite accumulation and to increase deficient substrates.
Anna, Pastore, Diego, Martinelli, Fiorella, Piemonte, Giulia, Tozzi, Sara, Boenzi, Gianna, Di Giovamberardino, Sara, Petrillo, Enrico, Bertini, Carlo, Dionisi-Vici   +8 more
openaire   +2 more sources