Reversible dementia in an adolescent with cblC disease: Clinical heterogeneity within the same family

Augoustides‐Savvopoulou, Persephone; Mylonas, I. K.; Sewell, A. C.; Rosenblatt, David S.

doi:10.1023/a:1005508620919

Cited by 26 publications

(19 citation statements)

References 2 publications

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“…The wide range of types and age of presentation (Table 1) (Mitchell et al 1986; Rosenblatt et al 1997; Shinnar and Singer 1984; Augoustides-Savvopoulou et al 1999; Roze et al 2003; Ben-Omran et al 2007; Thauvin-Robinet et al 2008), make the diagnosis of cblC disease a challenging one. The diagnosis can also be complicated by the history of normal newborn screening (Chace et al 2001), and the absence of metabolic acidosis and other systemic disturbances that would prompt the consultation by a metabolic disease specialist (Harding et al 2003).…”

Section: Clinical Presentationmentioning

confidence: 99%

“…Metabolic acidosis and hyperammonemia have been reported but are unusual (Martinelli et al 2010). The importance of the early diagnosis in cblC is highlighted by the relentless progression of the disease in the absence of appropriate treatment (Smith et al 2006; Augoustides-Savvopoulou et al 1999; Mudd et al 1969; Brandstetter et al 1990; Powers et al 2001; Frattini et al 2010). …”

Section: Clinical Presentationmentioning

confidence: 99%

“…Patients with cblC disease respond to parenteral OHCbl with a considerable improvement in biochemical parameters, resolution of hematological abnormalities (Mitchell et al 1986; Mamlok et al 1986; Bartholomew et al 1988; Tomaske et al 2001), a significant improvement in neurologic manifestations (Carmel et al 1980; Shinnar and Singer 1984; Enns et al 1999; Augoustides-Savvopoulou et al 1999; Bodamer et al 2001; Tomaske et al 2001), growth parameters (Bartholomew et al 1988; Kind et al 2002), and amelioration of vascular complications (Van Hove et al 2002). Normalization of visual evoked potentials and brain stem auditory potentials has also been reported (Mamlok et al 1986).…”

Section: Managementmentioning

confidence: 99%

“…A kinetic study in cblC disease patients showed that plasma B 12 levels peaked between 0.5 and 2 hours after administration and fell at a rate of approximately 12 mg/l/hr; the decrease in B 12 levels corresponded with an increase in metabolite levels (Van Hove et al 2002). Marked clinical and neurological deterioration has been described in patients weaned from daily to less frequent dosing (Carmel et al 1980; Augoustides-Savvopoulou et al 1999; Roze et al 2003). A girl who had a rapid clinical and neurological improvement with daily OHCbl injections worsened after the frequency of OHCbl injections was decreased; she had a marked improvement with the reintroduction of daily injections and achieved her prior academic level in school (Augoustides-Savvopoulou et al 1999).…”

Section: Managementmentioning

confidence: 99%

“…Marked clinical and neurological deterioration has been described in patients weaned from daily to less frequent dosing (Carmel et al 1980; Augoustides-Savvopoulou et al 1999; Roze et al 2003). A girl who had a rapid clinical and neurological improvement with daily OHCbl injections worsened after the frequency of OHCbl injections was decreased; she had a marked improvement with the reintroduction of daily injections and achieved her prior academic level in school (Augoustides-Savvopoulou et al 1999). …”

Section: Managementmentioning

confidence: 99%

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Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management

Carrillo-Carrasco

Chandler

Venditti

2011

J of Inher Metab Disea

191

257

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Combined methylmalonic acidemia and homocystinuria, cblC type, is an inborn error of intracellular cobalamin metabolism with a wide spectrum of clinical manifestations that is stated to be the most common inherited disorder of cobalamin metabolism. This metabolic disease is caused by mutations in the MMACHC gene and results in impaired intracellular synthesis of adenosylcobalamin and methylcobalamin, cofactors for the methylmalonyl-CoA mutase and methionine synthase enzymes. Elevated methylmalonic acid and homocysteine with decreased methionine production are the biochemical hallmarks of this disorder. Awareness of the diverse clinical presentations associated with cblC disease is necessary to provide a timely diagnosis, to guide management of affected individuals and to establish a framework for the future treatment of individuals detected through expanded newborn screening. This article reviews the biochemistry, clinical presentations, genotype-phenotype correlations, diagnosis and management of cblC disease.

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Section: Clinical Presentationmentioning

confidence: 99%

Section: Clinical Presentationmentioning

confidence: 99%

Section: Managementmentioning

confidence: 99%

Section: Managementmentioning

confidence: 99%

Section: Managementmentioning

confidence: 99%

See 3 more Smart Citations

Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management

Carrillo-Carrasco

Chandler

Venditti

2011

J of Inher Metab Disea

191

257

View full text Add to dashboard Cite

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Neuropsychiatric Disturbances in Presumed Late-Onset Cobalamin C Disease

Roze¹,

Gervais²,

Demeret³

et al. 2003

Arch Neurol

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Although complementation studies have not been conducted, it is most likely these patients had cobalamin C disease. This study emphasizes the possibility of late-onset disease with purely neurological manifestations. Left untreated, this treatable condition can lead to death or irreversible damage to the nervous system. Screening for intracellular vitamin B12 dysmetabolism should, therefore, be considered in the investigation of adults with unexplained neurological disease, particularly when they are initially seen with a clinical picture suggestive of vitamin B12 deficiency.

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Late‐onset cobalamin‐C disorder: A challenging diagnosis

Ben‐Omran

Wong

Blasér

et al. 2007

American J of Med Genetics Pt A

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Cobalamin-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. In this report, we describe clinical and biochemical findings of two unrelated patients with late-onset cblC disease who presented with neuropsychiatric symptoms. Serial MRI images are provided for one of these patients. Presumptive diagnosis was made with urine and plasma biochemical markers and confirmed with fibroblast analysis. These patients illustrate the challenging diagnosis of this disease and also report on the rare associated findings of vasculopathy and mitochondrial respiratory chain dysfunction. Mutation analysis of the MMACHC gene showed that both patients were homozygous for 394C --> T which suggests a founder effect.

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Reversible dementia in an adolescent with cblC disease: Clinical heterogeneity within the same family

Cited by 26 publications

References 2 publications

Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management

Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management

Neuropsychiatric Disturbances in Presumed Late-Onset Cobalamin C Disease

Late‐onset cobalamin‐C disorder: A challenging diagnosis

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