Isolated 3‐methylcrotonyl‐coenzyme A carboxylase deficiency in a child with metabolic stroke

Pinto, Luísa; Zen, Paulo Ricardo Gazzola; Rosa, Roberto De; Paskulin, Giorgio Adriano; Perla, A.S.; Barea, Liselotte Menke; Baumgartner, Matthias R.; Dantas, Maria Fernanda; Fowler, Brian; Giugliani, Roberto; Vargas, Camila Corrêa; Wajner, Moaçir; Graziadio, Carla

doi:10.1007/s10545-006-0188-0

Cited by 4 publications

(2 citation statements)

References 3 publications

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“…Clinical, biochemical, enzymatic or mutation data of 32 individuals have been reported earlier [proband 20-32a, 33-34, 36-43a, 44 and 46 [11], 30 [23], 35a and 35b [30], 42 [37], 44 [38], 50 [28], 80 [9], 81 [39], 96a and 96c [10], and 136 [26]].…”

Section: Methodsmentioning

confidence: 99%

3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals

Grünert

Stucki

Morscher

et al. 2012

Orphanet J Rare Dis

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BackgroundIsolated 3-methylcrotonyl-CoA carboxylase (MCC) deficiency is an autosomal recessive disorder of leucine metabolism caused by mutations in MCCC1 or MCCC2 encoding the α and β subunit of MCC, respectively. The phenotype is highly variable ranging from acute neonatal onset with fatal outcome to asymptomatic adults.MethodsWe report clinical, biochemical, enzymatic and mutation data of 88 MCC deficient individuals, 53 identified by newborn screening, 26 diagnosed due to clinical symptoms or positive family history and 9 mothers, identified following the positive newborn screening result of their baby.ResultsFifty-seven percent of patients were asymptomatic while 43% showed clinical symptoms, many of which were probably not related to MCC deficiency but due to ascertainment bias. However, 12 patients (5 of 53 identified by newborn screening) presented with acute metabolic decompensations. We identified 15 novel MCCC1 and 16 novel MCCC2 mutant alleles. Additionally, we report expression studies on 3 MCCC1 and 8 MCCC2 mutations and show an overview of all 132 MCCC1 and MCCC2 variants known to date.ConclusionsOur data confirm that MCC deficiency, despite low penetrance, may lead to a severe clinical phenotype resembling classical organic acidurias. However, neither the genotype nor the biochemical phenotype is helpful in predicting the clinical course.

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Section: Methodsmentioning

confidence: 99%

3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals

Grünert

Stucki

Morscher

et al. 2012

Orphanet J Rare Dis

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show abstract

“…Stadler considered that this disorder Flargely presents as non-disease_ and that Fonly a few individuals (<10%) develop symptoms, .....none reported so far can clearly be attributed to 3MCCC_ (Stadler et al 2006). Recent reports do indeed show a wide range of possible symptoms including severe hypoglycaemia (Bartlett et al 1984;Ficicioglu and Payan 2006;Oude Luttikhuis et al 2005), metabolic stroke (Pinto et al 2006;Steen et al 1999) hypotonia (Elpeleg et al 1992), hypertonia and failure to thrive (Tuchman et al 2007), severe muscle pain in an adult (Boneh et al 2005), cardiomyopathy with asymptomatic affected family members (Visser et al 2000), necrotizing encephalopathy (Baykal et al 2005), leukodystrophy (de Kremer et al 2002), progressive respiratory failure (Wisemann et al 1998), and developmental delay . There is also report of asymptomatic children, pre-dating newborn screening (Mourmans et al 1995;Pearson et al 1995), and asymptomatic adults detected by newborn screening of their children (Gibson et al 1998).…”

Section: Patients Who May Not Need Any Managementmentioning

confidence: 99%

The consequences of extended newborn screening programmes: Do we know who needs treatment?

Wilcken

2008

J of Inher Metab Disea

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The development of an evidence base for newborn screening is especially difficult because of the rarity of disorders now detectable. One consequence of expanded newborn screening is that physicians are being called upon to manage asymptomatic babies with persistent biochemical disturbances that indicate likely enzyme deficiencies. Some of these may be very mild. There is not always agreement as to who should be treated. Particular problems are seen with disorders that were previously thought very rare but are now found frequently by newborn screening. Some of these disorders appear benign or nearly so, and in the present state of knowledge should clearly not be included in routine newborn screening panels.

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Recurrent attacks of status epilepticus as predominant symptom in 3-methylcrotonyl-CoA carboxylase deficiency

Dırık

Yış

Paşaoğlu³

et al. 2008

Brain and Development

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Isolated 3‐methylcrotonyl‐coenzyme A carboxylase deficiency in a child with metabolic stroke

Abstract: We report a 3-year-old boy with isolated 3-methylcrotonyl-coenzyme A deficiency with unexpectedly severe presentation, seizures and history of cerebral ischae-mic episode.

Cited by 4 publications

References 3 publications

3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals

3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals

The consequences of extended newborn screening programmes: Do we know who needs treatment?

Recurrent attacks of status epilepticus as predominant symptom in 3-methylcrotonyl-CoA carboxylase deficiency

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