Literature DB >> 21347589

Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases.

Esmeralda Martins1, M Luis Cardoso, Esmeralda Rodrigues, Clara Barbot, Altina Ramos, Michael J Bennett, Elisa Leão Teles, Laura Vilarinho.   

Abstract

Short-chain 3-hydroxyacyl-CoA dehydrogenase (HADH, SCHAD) deficiency (OMIM #231530) represents a recently described disorder of mitochondrial fatty acid beta-oxidation, with less than ten cases described worldwide. The main clinical presentation of this metabolic disease is different from other inherited defects of fatty acid β-oxidation as the hypoglycemia is associated with hyperinsulinism. We present the clinical, biochemical and molecular findings of four new Caucasian patients with HADH deficiency. These new cases contribute to a more comprehensive description of the phenotype, diagnostic biomarkers and treatment options for this poorly defined disease.

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Year:  2011        PMID： 21347589     DOI： 10.1007/s10545-011-9287-7

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  20 in total

1.  Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid beta-oxidation.

Authors:  R J Wanders; L IJlst; A H van Gennip; C Jakobs; J P de Jager; L Dorland; F J van Sprang; M Duran
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

2.  Reye-like syndrome resulting from novel missense mutations in mitochondrial medium- and short-chain l-3-hydroxy-acyl-CoA dehydrogenase.

Authors:  Michael J Bennett; Laurie K Russell; Chonan Tokunaga; Srinivas B Narayan; Lu Tan; Adam Seegmiller; Richard L Boriack; Arnold W Strauss
Journal:  Mol Genet Metab       Date:  2006-05-24       Impact factor: 4.797

Review 3.  Fetal fatty acid oxidation disorders, their effect on maternal health and neonatal outcome: impact of expanded newborn screening on their diagnosis and management.

Authors:  Prem S Shekhawat; Dietrich Matern; Arnold W Strauss
Journal:  Pediatr Res       Date:  2005-04-06       Impact factor: 3.756

4.  Mechanism of hyperinsulinism in short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency involves activation of glutamate dehydrogenase.

Authors:  Changhong Li; Pan Chen; Andrew Palladino; Srinivas Narayan; Laurie K Russell; Samir Sayed; Guoxiang Xiong; Jie Chen; David Stokes; Yasmeen M Butt; Patricia M Jones; Heather W Collins; Noam A Cohen; Akiva S Cohen; Itzhak Nissim; Thomas J Smith; Arnold W Strauss; Franz M Matschinsky; Michael J Bennett; Charles A Stanley
Journal:  J Biol Chem       Date:  2010-07-29       Impact factor: 5.157

5.  Hunting for a hypoglycemia gene: severe neonatal hypoglycemia in a consanguineous family.

Authors:  Anders Molven; Unni Rishaug; Guri E Matre; Pål R Njølstad; Oddmund Søvik
Journal:  Am J Med Genet       Date:  2002-11-15

6.  Functional genomics of the beta-cell: short-chain 3-hydroxyacyl-coenzyme A dehydrogenase regulates insulin secretion independent of K+ currents.

Authors:  Olga T Hardy; Hans E Hohmeier; Thomas C Becker; Elisabetta Manduchi; Nicolai M Doliba; Rana K Gupta; Peter White; Christian J Stoeckert; Franz M Matschinsky; Christopher B Newgard; Klaus H Kaestner
Journal:  Mol Endocrinol       Date:  2006-12-21

7.  Fatal hepatic short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: clinical, biochemical, and pathological studies on three subjects with this recently identified disorder of mitochondrial beta-oxidation.

Authors:  M J Bennett; S D Spotswood; K F Ross; S Comfort; R Koonce; R L Boriack; L IJlst; R J Wanders
Journal:  Pediatr Dev Pathol       Date:  1999 Jul-Aug

8.  Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications.

Authors:  Andreas Schulze; Martin Lindner; Dirk Kohlmüller; Katharina Olgemöller; Ertan Mayatepek; Georg F Hoffmann
Journal:  Pediatrics       Date:  2003-06       Impact factor: 7.124

9.  3-Hydroxyacyl-coenzyme A dehydrogenase deficiency and hyperinsulinemic hypoglycemia: characterization of a novel mutation and severe dietary protein sensitivity.

Authors:  Ritika R Kapoor; Chela James; Sarah E Flanagan; Sian Ellard; Simon Eaton; Khalid Hussain
Journal:  J Clin Endocrinol Metab       Date:  2009-05-05       Impact factor: 5.958

10.  Short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency in muscle: a new cause for recurrent myoglobinuria and encephalopathy.

Authors:  I Tein; D C De Vivo; D E Hale; J T Clarke; H Zinman; R Laxer; A Shore; S DiMauro
Journal:  Ann Neurol       Date:  1991-09       Impact factor: 10.422
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  8 in total

Review 1.  Fatty acid oxidation disorders.

Authors:  J Lawrence Merritt; Marie Norris; Shibani Kanungo
Journal:  Ann Transl Med       Date:  2018-12

Review 2.  Hyperinsulinaemic hypoglycaemia: genetic mechanisms, diagnosis and management.

Authors:  Senthil Senniappan; Balasubramaniam Shanti; Chela James; Khalid Hussain
Journal:  J Inherit Metab Dis       Date:  2012-01-10       Impact factor: 4.982

3.  The molecular mechanisms, diagnosis and management of congenital hyperinsulinism.

Authors:  Senthil Senniappan; Ved Bhushan Arya; Khalid Hussain
Journal:  Indian J Endocrinol Metab       Date:  2013-01

4.  A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course.

Authors:  Emine Çamtosun; Sarah E Flanagan; Sian Ellard; Zeynep Şıklar; Khalid Hussain; Pınar Kocaay; Merih Berberoğlu
Journal:  J Clin Res Pediatr Endocrinol       Date:  2015-06

5.  Characterization by Suppression Subtractive Hybridization of Transcripts That Are Differentially Expressed in Leaves of Anthracnose-Resistant Ramie Cultivar.

Authors:  Wang Xuxia; Chen Jie; Wang Bo; Liu Lijun; Jiang Hui; Tang Diluo; Peng Dingxiang
Journal:  Plant Mol Biol Report       Date:  2012       Impact factor: 1.595

6.  Genome-scale identification of microRNA-related SNPs associated with risk of head and neck squamous cell carcinoma.

Authors:  Owen M Wilkins; Alexander J Titus; Jiang Gui; Melissa Eliot; Rondi A Butler; Erich M Sturgis; Guojun Li; Karl T Kelsey; Brock C Christensen
Journal:  Carcinogenesis       Date:  2017-10-01       Impact factor: 4.944

Review 7.  Genetic pathogenesis, diagnosis, and treatment of short-chain 3-hydroxyacyl-coenzyme A dehydrogenase hyperinsulinism.

Authors:  Wei Zhang; Yan-Mei Sang
Journal:  Orphanet J Rare Dis       Date:  2021-11-04       Impact factor: 4.123

8.  Genotype and phenotype correlations in Iranian patients with hyperinsulinaemic hypoglycaemia.

Authors:  Senthil Senniappan; Atefeh Sadeghizadeh; Sarah E Flanagan; Sian Ellard; Mahin Hashemipour; Majid Hosseinzadeh; Mansour Salehi; Khalid Hussain
Journal:  BMC Res Notes       Date:  2015-08-13
  8 in total

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