The adolescent and adult form of cobalamin C disease: clinical and molecular spectrum

Thauvin‐Robinet, Christel; Roze, Emmanuel; Couvreur, G.; Horellou, M. H.; Sedel, F; Grabli, David; Bruneteau, Gaëlle; Tonneti, C.; Masurel‐Paulet, Alice; Pérennou, Dominic; Moreau, Thibault; Giroud, M; Baulny, Hélène Ogier de; Giraudier, Stéphane; Faivre, Laurence

doi:10.1136/jnnp.2007.133025

Cited by 69 publications

(74 citation statements)

References 23 publications

(17 reference statements)

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“…The missense c.482G>A mutation is reported to be a late-onset mutation, with patients generally presenting in second or third decade (Lerner-Ellis et al 2005Morel et al 2006;Thauvin-Robinet et al 2007). A case series of five patients identified through NBS with homozygous c.482G>A mutations demonstrated that all were clinically well at age 2.5 months (Lin et al 2009).…”

Section: Discussionmentioning

confidence: 99%

“…Early diagnosis and treatment can improve outcomes but cannot prevent all complications of CblC disease (Rosenblatt et al 1997;Andersson et al 1999;Boxer et al 2005;Smith et al 2006;Thauvin-Robinet et al 2007;Martinelli et al 2011;Aleman et al 2014). Early therapy may be particularly beneficial for late-onset patients, as it can be started prior to the development of any organ damage .…”

Section: Discussionmentioning

confidence: 99%

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Cobalamin C Disease Missed by Newborn Screening in a Patient with Low Carnitine Level

et al. 2015

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Cobalamin C (CblC) disease is the most common inherited disorder of intracellular cobalamin metabolism. It is a multisystemic disorder mainly affecting the eye and brain and characterized biochemically by methylmalonic aciduria, low methionine level, and homocystinuria. We report a patient found to have CblC disease who initially presented with low carnitine and normal propionylcarnitine (C3) levels on newborn screen. Newborn screening likely failed to detect CblC in this patient because of both his low carnitine level and the presence of a mild phenotype.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Cobalamin C Disease Missed by Newborn Screening in a Patient with Low Carnitine Level

et al. 2015

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“…Folinic acid and betaine were used as adjacent therapy to lower tHcy. Oral HOCbl was less effective than the injections in preventing the thrombosis [ 133 ].…”

Section: Cobalamin C Defect (Cblc Mmachc)mentioning

confidence: 99%

“…Moreover, six of 11 cases described had encephalopathy, two had seizures, six suffered from myelopathy, and six suffered from psychiatric disturbances [ 133 ]. Neurological symptoms, as shown by magnetic resonance imaging, dominated with abnormalities in the white matter area, cortical atrophy, or medullar lesions mostly reported [ 133 ].…”

Section: Cobalamin C Defect (Cblc Mmachc)mentioning

confidence: 99%

“…Neurological symptoms, as shown by magnetic resonance imaging, dominated with abnormalities in the white matter area, cortical atrophy, or medullar lesions mostly reported [ 133 ]. None of the patients suffered from mental retardation and few remained free of neurological or psychiatric illnesses [ 133 ]. Death occurred in few cases despite treatment with Cbl.…”

Section: Cobalamin C Defect (Cblc Mmachc)mentioning

confidence: 99%

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Genetic defects in folate and cobalamin pathways affecting the brain

Kirsch

Herrmann

Obeid

2012

Clinical Chemistry and Laboratory Medicine (CCLM)

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Folate and cobalamin are necessary for early brain development and function. Deficiency of folate or cobalamin during pregnancy can cause severe malformation in the central nervous system such as neural tube defects. After birth, folate and cobalamin deficiency can cause anemia, failure to thrive, recurrent infections, psychiatric and neurological symptoms. The folate and the homocysteine metabolic pathways interact at a central step where 5-methyltetrahydrofolate donates its methyl group to homocysteine to produce methionine and tetrahydrofolate. Methyl cobalamin and folate interact at this critical step. Both nutrients have a crucial role in DNA synthesis and in delivering S-adenosylmethionine, the universal methyl donor. Severe and mild inherited disorders in folate and cobalamin pathways have been described. The two groups of disorders share some similarities, but differ in the molecular mechanism, metabolic dysregulation, and disease management. This review summarizes selected disorders, including rare and common mutations that affect folate and cobalamin absorption, transport, or dependent enzymes. When the mutations are discovered early enough, many of the described disorders are easily treatable by B vitamin supplementation, which often prevents or reverses the manifestation of the disease. Therefore, the screening for mutations is recommended and should be carried out as early as possible: after occurrence of the first symptoms or when a certain constellations of the folate and cobalamin related markers are measured, such as elevated homocysteine and/or methylmalonic acid.

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Serial Magnetic Resonance Imaging Changes in a Patient With Late-Onset Cobalamin C Disease With a Misdiagnosis of Metachromatic Leukodystrophy

Sun

2018

JAMA Neurol

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The adolescent and adult form of cobalamin C disease: clinical and molecular spectrum

Abstract: As cobalamin C disease and related disorders of homocysteine metabolism are treatable conditions, homocysteinaemia should be included in the investigations of patients with progressive neurological deterioration, unexplained psychiatric disturbances or recurrent thromboembolic events.

Cited by 69 publications

References 23 publications

Cobalamin C Disease Missed by Newborn Screening in a Patient with Low Carnitine Level

Cobalamin C Disease Missed by Newborn Screening in a Patient with Low Carnitine Level

Genetic defects in folate and cobalamin pathways affecting the brain

Serial Magnetic Resonance Imaging Changes in a Patient With Late-Onset Cobalamin C Disease With a Misdiagnosis of Metachromatic Leukodystrophy

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