A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts

Burlina, Alberto; Dionisi‐Vici, Carlo; Bennett, Michael J.; Gibson, K. Michael; Servidei, Serenella; Bertini, Enrico; Hale, Daniel E.; Schmidt-Sommerfeld, Eberhard; Sabetta, G.; Zacchello, Franco; Rinaldo, Piero

doi:10.1016/s0022-3476(94)70257-8

Cited by 71 publications

(50 citation statements)

References 23 publications

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“…Therefore, it is also possible that inactivation of ETHE1 disrupts an aspect of secondary sulfur metabolism, which in turn could affect the levels of brassinosteroid and jasmonate hormones and/or other sulfonated compounds necessary for embryo growth (Klein and Papenbrock, 2004;Halkier and Gershenzon, 2006;Amano et al, 2007). EE patients display a wide range of metabolic alterations, many of which are not easily explained by the sulfur dioxygenase activity of ETHE1 (Burlina et al, 1991(Burlina et al, , 1994Tiranti et al, 2004Tiranti et al, , 2006Tiranti et al, , 2009. We expect that this will also be the situation in plants and that more detailed studies on ETHE1 and sulfur metabolism during seed development will be required before the specific basis of the seed defect in ethe1 plants is fully understood.…”

Section: Discussionmentioning

confidence: 99%

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Arabidopsis ETHE1 Encodes a Sulfur Dioxygenase That Is Essential for Embryo and Endosperm Development

et al. 2012

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Mutations in human (Homo sapiens) ETHYLMALONIC ENCEPHALOPATHY PROTEIN1 (ETHE1) result in the complex metabolic disease ethylmalonic encephalopathy, which is characterized in part by brain lesions, lactic acidemia, excretion of ethylmalonic acid, and ultimately death. ETHE1-like genes are found in a wide range of organisms; however, the biochemical and physiological role(s) of ETHE1 have not been examined outside the context of ethylmalonic encephalopathy. In this study we characterized Arabidopsis (Arabidopsis thaliana) ETHE1 and determined the effect of an ETHE1 loss-of-function mutation to investigate the role(s) of ETHE1 in plants. Arabidopsis ETHE1 is localized in the mitochondrion and exhibits sulfur dioxygenase activity. Seeds homozygous for a DNA insertion in ETHE1 exhibit alterations in endosperm development that are accompanied by a delay in embryo development followed by embryo arrest by early heart stage. Strong ETHE1 labeling was observed in the peripheral and chalazal endosperm of wild-type seeds prior to cellularization. Therefore, ETHE1 appears to play an essential role in regulating sulfide levels in seeds.

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Section: Discussionmentioning

confidence: 99%

“…Biochemical alterations associated with EE include elevated levels of C 4 and C 5 plasma acylcarnitines, and elevated urinary excretion of high levels of ethylmalonic acid and thiosulfate (Tiranti et al, 2004). The disease is ultimately lethal within the first decade of life (Burlina et al, 1991(Burlina et al, , 1994.…”

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confidence: 99%

Arabidopsis ETHE1 Encodes a Sulfur Dioxygenase That Is Essential for Embryo and Endosperm Development

et al. 2012

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“…Ethylmalonic encephalopathy is a rare infantile metabolic disorder with a distinctive clinical presentation characterized by hypotonia, developmental delay and regression, orthostatic acrocyanosis, relapsing petechiae, chronic diarrhea, and Clinical Chemistry 51, No. 3,2005 progressive pyramidal and extrapyramidal signs (31 ). As in SBCADD, patients with ethylmalonic encephalopathy have increased urinary excretion of 2-EHA and 2-MBG.…”

Section: Discussionmentioning

confidence: 99%

2-Ethylhydracrylic Aciduria in Short/Branched-Chain Acyl-CoA Dehydrogenase Deficiency: Application to Diagnosis and Implications for the R-Pathway of Isoleucine Oxidation

et al. 2005

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Background: Isolated excretion of 2-methylbutyrylglycine (2-MBG) is the hallmark of short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD), a recently identified defect in the proximal pathway of L-isoleucine oxidation. SBCADD might be underdiagnosed because detection and recognition of urine acylglycines is problematic. Excretion of 2-ethylhydracrylic acid (2-EHA), an intermediate formed in the normally minor R-pathway of L-isoleucine oxidation, has not previously been described in SBCADD. Methods: Samples from four patients with 2-MBG excretion were analyzed by gas chromatography-mass spectrometry for urine organic acids, quantification of 2-MBG, and chiral determination of 2-methylbutyric acid. Blood-spot acylcarnitines were measured by electrospray-tandem mass spectrometry. Mutations in the ACADSB gene encoding SBCAD were identified by direct sequencing. Results: SBCADD was confirmed in each patient by demonstration of different ACADSB gene mutations. In

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“…The underlying metabolic defect is unknown. The in vitro activities of short chain acylCoA dehydrogenase [Burlina et al, 1991] and 2-methyl-branched chain acylCoA dehydrogenase [Burlina et al, 1994], two enzymes whose deficiencies could theoretically produce the biochemical findings observed in EE, are normal.…”

Section: Introductionmentioning

confidence: 99%

“…Symmetric lesions in the basal ganglia (caudate and putamen), periventricular white matter, and cerebellar dentate nuclei have been detected on MRI and tomographic studies of the central nervous system in patients with EE [Ozand et al, 1994;Burlina et al, 1994]. However, no structural abnormalities have been reported in the 19 patients with EE reported to date [Burlina et al, 1991[Burlina et al, , 1994Ozand et al, 1994;Chen et al, 1994;Garcia-Silva et al, 1994;Garavaglia et al, 1994].…”

Section: Introductionmentioning

confidence: 99%

Central nervous system malformations in ethylmalonic encephalopathy

1998

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Central nervous system malformations have been reported in a number of inherited enzyme defects. Ethylmalonic encephalopathy, an organic aciduria of unknown pathogenesis, has not been reported previously in association with brain or spinal cord malformations. We report on 2 sibs with confirmed ethylmalonic encephalopathy and malformations of the central nervous system; one with tethered cord, the other with cerebellar tonsillar ectopia (Chiari I malformation).

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A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts

Cited by 71 publications

References 23 publications

Arabidopsis ETHE1 Encodes a Sulfur Dioxygenase That Is Essential for Embryo and Endosperm Development

Arabidopsis ETHE1 Encodes a Sulfur Dioxygenase That Is Essential for Embryo and Endosperm Development

2-Ethylhydracrylic Aciduria in Short/Branched-Chain Acyl-CoA Dehydrogenase Deficiency: Application to Diagnosis and Implications for the R-Pathway of Isoleucine Oxidation

Central nervous system malformations in ethylmalonic encephalopathy

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