A congenital anomaly of vitamin B12 metabolism: A study of three cases

Russo, Pierre; Doyon, Josée; Sonsino, E; Ogier, H.; Saudubray, Jean‐Marie

doi:10.1016/0046-8177(92)90127-o

Cited by 65 publications

(44 citation statements)

References 33 publications

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“…Furthermore, failure to thrive and neurologic symptoms were absent. In contrast, all seven cobalamin C patients with hemolytic uremic syndrome had presented in the first year of life [Baumgartner et al, 1979;Brandstetter et al, 1990;Geraghty et al, 1992;Russo et al, 1992;Chenel et al, 1993]. In these previously reported patients a diarrheal prodromal phase was absent, but failure to thrive and seizures were common.…”

Section: Discussionmentioning

confidence: 81%

“…Familial cases of TMA occur as a result of a genetic deficiency in this protease [Furlan et al, 1998]. Familial TMA is also described in patients with complement deficiencies and in infants with a disorder of vitamin B 12 metabolism cobalamin-C (Cbl-C) [Baumgartner et al, 1979;Brandstetter et al, 1990;Geraghty et al, 1992;Russo et al, 1992;Chenel et al, 1993].…”

Section: Introductionmentioning

confidence: 97%

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Cobalamin disorder Cbl‐C presenting with late‐onset thrombotic microangiopathy

et al. 2002

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Two siblings, a boy age 12 and his sister age 4 years, presented with proteinuria and hematuria, hypertension, and chronic hemolytic anemia. At age 13 years, the boy developed an episode of severe hypertensive encephalopathy and transient renal failure. Both children are attending normal school, have no neurologic symptoms, and only minimal pigmentary retinal abnormalities. Renal biopsy showed a chronic thrombotic microangiopathic nephropathy. Both patients had hyperhomocysteinemia and mild methylmalonic aciduria. Fibroblasts showed decreased cobalamin uptake, reduced methyl- and adenosyl-cobalamin formation, and deficient incorporation of formate and propionate, compatible with the Cbl-C complementation group, but milder than that found in cells from most patients. Both patients and their father carry a balanced reciprocal translocation. Parenteral hydroxycobalamin treatment reduced the homocysteine levels, and methylmalonic acid disappeared. Increasing the dosage of hydroxycobalamin from 1 to 2.5, then 5 mg daily together with betaine, further reduced homocysteine levels (boy from 118 to 23 microM and girl from 59 to 14 microM). With this treatment, hemolysis has stopped, hematuria has disappeared, proteinuria has almost normalized, and creatinine clearance has been stable. Investigations for chronic thrombotic microangiopathy should include testing for this unusual but treatable disorder, regardless of age of presentation.

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Section: Discussionmentioning

confidence: 81%

Section: Introductionmentioning

confidence: 97%

Cobalamin disorder Cbl‐C presenting with late‐onset thrombotic microangiopathy

et al. 2002

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“…Furthermore, in 3 infants with fatal cblC defect presenting in the first weeks after birth with metabolic acidosis, pancytopenia, lethargy, hepatic dysfunction, respiratory insufficiency, and hemolytic uremic syndrome, lung postmortem findings were dominated by thrombotic microangiopathy. 12 Thromboembolic complications have been reported in cblC defect as the result of hyperhomocysteinemia in inducing vascular damage. 13 Brandstetter et al 14 reported an infant with a probable cblC defect, a bronchiolitislike illness, and acute cor pulmonale secondary to pulmonary thromboembolism.…”

Section: Discussionmentioning

confidence: 99%

“…Cobalamin C (cblC) defect is the most common inborn error of vitamin B 12 (cobalamin) metabolism and is responsible for the impaired conversion of dietary cobalamin into its 2 metabolically active forms, methylcobalamin and adenosylcobalamin. 1 Methylcobalamin is the cofactor for methionine synthase, which catalyzes the conversion of homocysteine into methionine in the cytosol; adenosylcobalamin is the cofactor for methylmalonyl-coenzyme A (CoA) mutase, which converts methylmalonylCoA into succinyl-CoA in the mitochondria.…”

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confidence: 99%

Cobalamin C Defect Presenting With Isolated Pulmonary Hypertension

Iodice

Chiara

Boenzi³

et al. 2013

Pediatrics

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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 neurologic findings are common and include hypotonia, developmental delay, microcephaly, seizures hydrocephalus, and brain MRI abnormalities. We report a case of a young boy with cblC defect, who did not undergo newborn screening, presenting at the age of 2 years with isolated pulmonary hypertension as the leading symptom. This novel way of presentation of cblC defect enlarges the spectrum of inherited diseases that must be considered in the differential diagnosis of pulmonary hypertension.

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“…Figure 3 offers an approach to the diagnosis. Occasionally the clinician will care for a patient where the diagnosis of aHUS is not clear-cut [44,68].…”

Section: Diagnosis and Definitionmentioning

confidence: 99%

Atypical hemolytic uremic syndrome: a syndrome in need of clarity

Berger

2018

Clinical Kidney Journal

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Atypical hemolytic uremic syndrome (aHUS) is a thrombotic microangiopathy (TMA) originally understood to be limited to renal and hematopoietic involvement. Whereas aberrations in complement regulatory proteins (CRPs), C3 or complement factor B (CFB) are detected in 60% of patients, a complement-derived pathogenesis that reflects dysregulation of the alternative pathway (AP) of complement activation is present in 90% of patients. aHUS remains a diagnosis of exclusion. The discovery of a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13 (ADAMTS13) and its utility in the diagnosis of thrombotic thrombocytopenic purpura (TTP) has resulted in the appreciation that cases of aHUS have been inappropriately diagnosed as TTP. Thus there has been an evolving appreciation of clinical manifestations of aHUS that renders the appellation aHUS misleading. This article will review the pathogenesis and the evolving clinical presentations of aHUS, present a hypothesis that there can be a phenotypic expression of aHUS due to a complement storm in a disorder where direct endothelial damage occurs and discuss future areas of research to more clearly define the clinical spectrum and management of aHUS.

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A congenital anomaly of vitamin B12 metabolism: A study of three cases

Cited by 65 publications

References 33 publications

Cobalamin disorder Cbl‐C presenting with late‐onset thrombotic microangiopathy

Cobalamin disorder Cbl‐C presenting with late‐onset thrombotic microangiopathy

Cobalamin C Defect Presenting With Isolated Pulmonary Hypertension

Atypical hemolytic uremic syndrome: a syndrome in need of clarity

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