Results 11 to 20 of about 8,712 (196)

High‐dose hydroxocobalamin achieves biochemical correction and improvement of neuropsychiatric deficits in adults with late onset cobalamin C deficiency [PDF]

JIMD Reports, 2020
Cobalamin C (cblC) deficiency is the most common inborn error of intracellular cobalamin metabolism caused by pathogenic variant(s) in MMACHC and manifests with methylmalonic acidemia, hyperhomocysteinemia, and hypomethioninemia with a variable age of ...
Tomoyasu Higashimoto, Alexander Y. Kim, Jessica T. Ogawa, Jennifer L. Sloan, Mohammed A. Almuqbil, Julia M. Carlson, Irini Manoli, Charles P. Venditti, Meral Gunay‐Aygun, Tao Wang   +9 more
doaj   +4 more sources

Pearls & Oy-sters: Late-Onset Cobalamin C Deficiency Presenting With Subacute Combined Degeneration. [PDF]

Neurology, 2023
Cobalamin C (CblC) deficiency is a rare inborn error in cobalamin (vitamin B12) metabolism which results in impaired intracellular processing of dietary vitamin B12. This leads to a wide range of clinical manifestations including cognitive impairment, psychiatric symptoms, myelopathy, thrombotic events, glomerulonephritis, and pulmonary arterial ...
Goyne C, Kansal L.
europepmc   +6 more sources

Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency. [PDF]

Ophthalmology, 2016
To explore the ocular manifestations of cobalamin C (cblC) deficiency, an inborn error of intracellular vitamin B12 metabolism.Retrospective, observational case series.Twenty-five cblC patients underwent clinical and ophthalmic examination at the National Institutes of Health between August 2004 and September 2012.
Brooks BP, Thompson AH, Sloan JL, Manoli I, Carrillo-Carrasco N, Zein WM, Venditti CP.   +6 more
europepmc   +5 more sources

Late-onset cobalamin C deficiency type in adult with cognitive and behavioral disturbances and significant cortical atrophy and cerebellar damage in the MRI: a case report [PDF]

Frontiers in Neurology, 2023
BackgroundLate-onset cobalamin C (cblC) deficiency is associated with a wide range of neurological and psychiatric symptoms, hematological manifestations, anorexia, renal failure, ocular abnormalities, dermatitis, and pancreatitis.
Miao Sun, Yingjie Dai
doaj   +4 more sources

Case presentation: a severe case of cobalamin c deficiency presenting with nephrotic syndrome, malignant hypertension and hemolytic anemia [PDF]

BMC Nephrology
Background The etiology of nephrotic syndrome can vary, with underlying metabolic diseases being a potential factor. Cobalamin C (cblC) defect is an autosomal recessive inborn error of metabolism caused by mutations in the MMACHC gene, resulting in ...
Halil Tuna Akar, Harun Yıldız, Zeynelabidin Öztürk, Deniz Karakaya, Abdullah Sezer, Asburçe Olgaç   +5 more
doaj   +4 more sources

Isolated subacute combined degeneration in late-onset cobalamin C deficiency in children: Two case reports and literature review. [PDF]

Medicine (Baltimore), 2019
Abstract Rationale: Subacute combined degeneration (SCD) is a disease caused by decreased vitamin B12 intake or metabolic disorders. It is more common in the elderly and rarely seen in children.
Cui J, Wang Y, Zhang H, Cui X, Wang L, Zheng H.   +5 more
europepmc   +4 more sources

Cobalamin C deficiency in an adolescent with altered mental status and anorexia. [PDF]

Pediatrics, 2014
Although cobalamin (cbl) C deficiency is the most common inherited disorder of vitamin B12 metabolism, the late-onset form of the disease can be difficult to recognize because it has a broad phenotypic spectrum. In this report, we describe an adolescent female exposed to unknown illicit substances and sexual abuse who presented with psychosis, anorexia,
Rahmandar MH, Bawcom A, Romano ME, Hamid R.   +3 more
europepmc   +6 more sources

Cobalamin C Deficiency Induces a Typical Histopathological Pattern of Renal Arteriolar and Glomerular Thrombotic Microangiopathy. [PDF]

Kidney Int Rep, 2018
Cobalamin C (cblC) deficiency is the most common inborn error of vitamin B12 metabolism. Renal failure attributed to thrombotic microangiopathy (TMA) has occasionally been described in the late-onset presentation of cblC deficiency, but kidney lesions associated with cblC deficiency remain poorly defined. This study aims to describe the characteristics
Lemoine M, François A, Grangé S, Rabant M, Châtelet V, Cassiman D, Cornec-Le Gall E, Ambrosetti D, Deschênes G, Benoist JF, Guerrot D.   +10 more
europepmc   +9 more sources

Renal thrombotic microangiopathy and pulmonary arterial hypertension in a patient with late-onset cobalamin C deficiency. [PDF]

Clin Kidney J, 2018
Cobalamin C (cblC) deficiency is the most commonly inherited inborn error of vitamin B12 metabolism. It is characterized by multisystem involvement with severe neurological, hematological, renal and cardiopulmonary manifestations. Disease is most commonly diagnosed early in the first decade of life. We report a case of a 20-year-old woman who developed
Petropoulos TE, Ramirez ME, Granton J, Licht C, John R, Moayedi Y, Morel CF, McQuillan RF.   +7 more
europepmc   +5 more sources

Cobalamin C Deficiency Shows a Rapidly Progressing Maculopathy With Severe Photoreceptor and Ganglion Cell Loss. [PDF]

Invest Ophthalmol Vis Sci, 2015
To describe in detail the retinal structure and function of a group of patients with cobalamin C (cblC) disease.Patients (n = 11, age 4 months to 15 years) with cblC disease (9/11, early onset) diagnosed by newborn screening underwent complete ophthalmic examinations, fundus photography, near-infrared reflectance imaging, and spectral-domain optical ...
Bonafede L, Ficicioglu CH, Serrano L, Han G, Morgan JI, Mills MD, Forbes BJ, Davidson SL, Binenbaum G, Kaplan PB, Nichols CW, Verloo P, Leroy BP, Maguire AM, Aleman TS.   +14 more
europepmc   +7 more sources