Methylenetetrahydrofolate reductase deficiency (homocystinuria type II) as a rare cause of rapidly progressive tetraspasticity and psychosis in a previously healthy adult

Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency

“…While patients with very low enzyme activity predominantly experience early-onset disease with severe neonatal encephalopathy often accompanied by apnoea, later-onset disease in patients with residual activity must be kept in mind as a differential diagnosis to mental retardation and psychiatric disease in children, adolescents and adults. This psychiatric type of the disease has occasionally been described before (Haworth et al 1993;Goyette et al 1995;Birnbaum et al 2008;Lossos et al 2014) and has been responsive to treatment in some cases (Birnbaum et al 2008;Michot et al 2008), which is consistent with our findings.…”

“…A relation between in vitro enzyme activity and clinical course has occasionally been postulated (Goyette et al 1995;Birnbaum et al 2008;Forges et al 2010) but has not yet been systematically investigated.…”

Guidelines for diagnosis and management of the cobalamin‐related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency

“…References: Fischer et al 2014; Al Essa et al 1999; Al Tawari et al 2002; Alfadhel et al 2011; Andersson et al 1999; Andersson and Shapira 1998; Arai and Osaka 2011; Arn et al 1998; Atkinson et al 2014; Augoustides-Savvopoulou et al 1999; Backe et al 2013; Baumgartner et al 1979a; Baumgartner et al 1979b; Beauchamp et al 2009; Bellini et al 1992; Ben-Shachar et al 2012; Biancheri et al 2002; Biancheri et al 2001; Biotti et al 2014; Birnbaum et al 2008; Bishop et al 2008; Brandstetter et al 1990; Broomfield et al 2014; Brunel-Guitton et al 2010; Brunelli et al 2002; Cappuccio et al 2014; Carmel et al 1980; Carmel et al 1988; Carrillo-Carrasco et al 2009; Carrillo-Carrasco et al 2012a, b; Cerone et al 2000; Chang et al 2011; Clayton et al 1986; Coelho et al 2008; Cogan et al 1980; D’Aco et al 2014; D’Alessandro et al 2010; De Bie et al 2009; Dionisi-Vici et al 2013; Ellaway et al 1998; Engelbrecht et al 1997; Enns et al 1999; Fuchs et al 2012; Geraghty et al 1992; Gerth et al 2008; Goodman et al 1970; Goyette et al 1996; Goyette et al 1995; Goyette et al 1994; Grant et al 2009; Grünert et al 2011; Guigonis et al 2005; Gulati et al 1997; Haan et al 1985; Harding et al 1997; Harpey et al 1981; Haworth et al 1993; Holme and Ronge 1989; Howard et al 1997; Huemer et al 2005, 2014, 2015a, b; Hyland et al 1988; Kanwar et al 1976; Kind et al 2002; Lesesve and Latger-Cannard 2013; Levy et al 1970; Longo et al 2005; Lossos...…”

“…With increasing age, peripheral neuropathy, gait abnormalities and spasticity may become evident and some older patients manifest with additional or even isolated behavioural or psychiatric disorders (Birnbaum et al 2008; Michot et al 2008). …”

Recessive spastic paraparesis associated with complex I deficiency due toMTHFRmutations

“…Ataxia,3 extrapyramidal features,4 and neuropathy1 have been reported in infants. Pyramidal tract involvement has been described in infants and children, with a rapid course in one adult,5 but a slowly progressive course resembling HSP has not been described previously.…”