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

@article{ThauvinRobinet2008TheAA,
  title={The adolescent and adult form of cobalamin C disease: clinical and molecular spectrum},
  author={Christel Thauvin‐Robinet and Emmanuel Roze and Gr{\'e}gory Couvreur and M. H. Horellou and Fr{\'e}d{\'e}ric Sedel and David Grabli and Ga{\"e}lle Bruneteau and C Tonneti and Alice Masurel-Paulet and Dominic P{\'e}rennou and Thibault Moreau and Maurice Giroud and H{\'e}l{\`e}ne Ogier de Baulny and St{\'e}phane Giraudier and Laurence Faivre},
  journal={Journal of Neurology, Neurosurgery, and Psychiatry},
  year={2008},
  volume={79},
  pages={725 - 728}
}
Background: Cobalamin C disease is the most common inborn error of cobalamin metabolism with an autosomal recessive mode of inheritance and mutations within the MMACHC gene. Clinical features, including systemic, haematological and neurological abnormalities, usually occur in the first year of life. Adolescent and adult onset presentations are rare. Methods: We report on the clinical, molecular and imaging features in three patients aged 40, 42 and 42 years at the last follow-up. We examine… Expand
Mutation spectrum of MMACHC in Chinese pediatric patients with cobalamin C disease: A case series and literature review.
TLDR
The cause behind the different mutation spectrum of MMACHC gene between the Chinese and Caucasian populations was analysed and the most common mutations in the Caucasian population were c.271dupA and c.331C > T, both of which were mainly associated with early-onset cblC in children less than 1 year old. Expand
Peripheral Nervous System Involvement in Late-Onset Cobalamin C Disease?
TLDR
Late-onset cblC disease had possible heterogeneous group of distal axonal neuropathy, especially in patients with methylmalonic aciduria type C and homocysteinemia, and c.482G>A mutation is a hot spot mutation in late-ONSet cBlC disease. Expand
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The survey points to the need for prospective studies in a large cohort using agreed treatment modalities and monitoring criteria to determine the long-term neurological and ophthalmological outcome of cblC patients. Expand
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TLDR
Newborn screening for the cblC defect might be of benefit especially for late-onset patients since treatment seems efficient when initiated before irreversible organ damage and in general, inborn errors of metabolisms should be considered in unexplained medical cases at any age, especially in patients with multisystemic disease. Expand
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The unfavorable outcome suggests that better understanding of the pathophysiology of the disease is needed to improve treatment protocols and to develop new therapeutic approaches. Expand
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TLDR
This is the first report of 2 cases of isolated SCD in children with late-onset cobalamin C (CblC) deficiency, and doctors should consider that SCD could be an isolated symptom of CblC disorder. Expand
Ocular disease in the cobalamin C defect: a review of the literature and a suggested framework for clinical surveillance.
TLDR
Data suggest that maculopathy and nystagmus with abnormal vision are extremely common and affect the majority of children with early-onset cblC, usually before school age; strabismus and optic atrophy are also seen at relatively high frequency. Expand
A Treatable Metabolic Cause of Encephalopathy: Cobalamin C Deficiency in an 8-Year-Old Male
TLDR
A previously healthy 8-year-old boy who presented with a month-long history of waxing and waning encephalopathy and acute regression, followed by seizures is reported, illustrating an unusual presentation of a treatable metabolic disorder and highlighting the need to consider cobalamin defects in the differential diagnosis of healthy children with neurologic regression. Expand
Efficacy of early treatment in patients with cobalamin C disease identified by newborn screening: a 16-year experience
TLDR
Although dietary therapy for cblC patients improves metabolic control, few patients experience metabolic decompensation regardless of diet, and overall, outcomes are poor despite early initiation of therapy and regardless of the dietary strategy used. Expand
High‐dose hydroxocobalamin achieves biochemical correction and improvement of neuropsychiatric deficits in adults with late onset cobalamin C deficiency
TLDR
It is demonstrated that high‐dose hydroxocobalamin achieves rapid and sustainable metabolic control and improvement in neuropsychiatric outcomes in adults with late‐onset cblC disease. Expand
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