31 Result(s)

Chapter

Chronic Diarrhea in l-Amino Acid Decarboxylase (AADC) Deficiency: A Prominent Clinical Finding Among a Series of Ten French Patients

Aromatic l-amino acid decarboxylase (AADC) deficiency is an autosomal recessive inborn error of metabolism, affecting catecholamines and serotonin biosynthesis. Cardinal signs consist in psychomotor delay, hypoto...

M. A. Spitz, M. A. Nguyen, S. Roche, B. Heron, M. Milh… in JIMD Reports, Volume 31 (2017)

Chapter

Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum

The analysis of acylcarnitines (AC) in plasma/serum is established as a useful test for the biochemical diagnosis and the monitoring of treatment of organic acidurias and fatty acid oxidation defects. External...

P. Ruiz Sala, G. Ruijter, C. Acquaviva, A. Chabli… in JIMD Reports, Volume 30 (2016)

Article

Signes d’appel anténataux des maladies héréditaires du métabolisme

Plusieurs maladies héréditaires du métabolisme (MHM) peuvent s'exprimer en anténatal. Il s'agit de pathologies sévères de métabolismes actifs dès la vie foetale, sans moyen de compensation maternel ou placenta...

R. Bouvier, S. Collardeau-Frachon, M. -P. Cordier… in Revue de médecine périnatale (2012)

Article

Development and implementation of a novel assay for l-2-hydroxyglutarate dehydrogenase (l-2-HGDH) in cell lysates: l-2-HGDH deficiency in 15 patients with l-2-hydroxyglutaric aciduria

l-2-hydroxyglutaric aciduria (l-2-HGA) is a rare inherited autosomal recessive neurometabolic disorder caused by mutations in the gene encoding l-2-hydroxyglutarate dehydrogenase. An assay to evaluate l-2-hydrox...

M. Kranendijk, G. S. Salomons, K. M. Gibson… in Journal of Inherited Metabolic Disease (2009)

Article

Quality of analytical performance in inherited metabolic disorders: the role of ERNDIM

External quality assurance (EQA) schemes are essential for improvement of accuracy, reliability and comparability of results of biochemical genetic tests. ERNDIM (European Research Network for evaluation and i...

B. Fowler, A. Burlina, V. Kozich, C. Vianey-Saban in Journal of Inherited Metabolic Disease (2008)

Article

Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathy

High concentrations of butyryl/isobutyrylcarnitine (C₄-carnitine) in plasma with increase of ethylmalonic acid (EMA) in urine point to different genetic entities, and further investigations are required to differ...

B. Merinero, C. Pérez-Cerdá, P. Ruiz Sala… in Journal of Inherited Metabolic Disease (2006)

Article

CDG IIx with unusual phenotype

Summary: Congenital disorders of glycosylation (CDG) are a group of genetic diseases characterized by defective protein glycosylation. N-glycosylation defects are divided into two groups (I and II). CDG group II...

D. Cheillan, S. Cognat, C. Dorche, J. Jaeken… in Journal of Inherited Metabolic Disease (2004)

Article

Respiratory complex II defect in siblings associated with a symptomatic secondary block in fatty acid oxidation

Summary: The mitochondrial oxidative phosphorylation and fatty acid oxidation pathways have traditionally been considered independent major sources of cellular energy production; however,...

J. J. Gargus, K. Boyle, M. Bocian, D. S. Roe… in Journal of Inherited Metabolic Disease (2003)

Article

Adult presentation of MCAD deficiency revealed by coma and severe arrythmias.

We report the case of a 33-year-old man who presented with headaches and vomiting. Soon after admission he became drowsy and agitated, developed ventricular tachycardia and his neurological state worsened (Gla...

F. Feillet, G Steinmann, C. Vianey-Saban, C. de Chillou… in Intensive Care Medicine (2003)

Article

Recurrent vomiting and ethylmalonic aciduria associated with rare mutations of the short-chain acyl-CoA dehydrogenase gene

Summary: We report identification of short-chain acyl-CoA dehydrogenase (SCAD) deficiency in a 12-year-old boy who suffered from recurrent attacks of vomiting once or twice a year from infancy. Growth and develo...

J. Seidel, S. Streck, K. Bellstedt… in Journal of Inherited Metabolic Disease (2003)

Article

Antenatal expression of multiple acyl-CoA dehydrogenase deficiency

C. Vianey-Saban, R. Bouvier, P. Cochat… in Journal of Inherited Metabolic Disease (2000)

Article

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and early-onset liver cirrhosis in two siblings

We present the clinical, pathological, biochemical, and molecular results on an infant girl with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency and data on her deceased elder brother for whom th...

L. Van Maldergem, D. Tuerlinckx, R. J. Wanders… in European Journal of Pediatrics (2000)

Article

Adolescent myopathic presentation in two sisters with very long-chain acyl-CoA dehydrogenase deficiency

Two sisters were investigated at the ages of 20 and 13 years owing to persistently increased serum creatine kinase and recurrent episodes of rhabdomyolysis after emotional stress in the older and myalgias in t...

B. Merinero, S. I. Pascual Pascual… in Journal of Inherited Metabolic Disease (1999)

Article

Recognition and management of fatty acid oxidation defects: A series of 107 patients

In a personal series of 107 patients, we describe clinical presentations, methods of recognition and therapeutic management of inherited fatty acid oxidation (FAO) defects. As a whole, FAO disorders appear ver...

J. M. Saudubray, D. Martin, P. De Lonlay… in Journal of Inherited Metabolic Disease (1999)

Article

Determination of total fatty acids in plasma: cis-5-Tetradecenoic acid (C14:1ω-9) in the diagnosis of long-chain fatty acid oxidation defects

P. Divry, C. Vianey-Saban, M. Mathieu in Journal of Inherited Metabolic Disease (1999)

Article

DNA-based prenatal diagnosis for very-long- chain acyl-CoA dehydrogenase deficiency

B. S. Andresen, S. Olpin, E. A. Kvittingen… in Journal of Inherited Metabolic Disease (1999)

Article

Neonatal medium-chain acyl-CoA dehydrogenase deficiency presenting with very high creatine kinase levels

E. Riudor, J. A. Arranz, R. Anguera, S. Salcedo… in Journal of Inherited Metabolic Disease (1998)

Article

Diagnosis of inborn errors of metabolism by acylcarnitine profiling in blood using tandem mass spectrometry

C. Vianey-Saban, N. Guffon, F. Delolne… in Journal of Inherited Metabolic Disease (1997)

Article

Short-chain acyl-CoA dehydrogenase deficiency in a 16-year-old girl with severe muscle wasting and scoliosis

K. E. Baerlocher, B. Steinmann, A. Aguzzi… in Journal of Inherited Metabolic Disease (1997)