Literature DB >> 33489165

Succinic semialdehyde dehydrogenase deficiency presenting with central hypothyroidism.

Malak Ali Alghamdi1,2, Waleed H Alkhamis3, Dima Z Jamjoom4, Reem Al Khalifah5, Nawaf Rahi Alshammari6, Khalid Alsumaili7, Stefan T Arold8.   

Abstract

Central hypothyroidism might be another clinical sign of SSADH deficiency which prompts urinary organic acid screening for GHB in central hypothyroidism patients. Studies on GABA and thyroid hormone interaction might be a concept of a new therapy.
© 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.

Entities:  

Keywords:  ALDH5A1; central hypothyroidism; developmental delay; succinic semialdehyde dehydrogenase deficiency

Year:  2020        PMID： 33489165      PMCID： PMC7813088          DOI： 10.1002/ccr3.3504

Source DB:  PubMed          Journal:  Clin Case Rep        ISSN： 2050-0904


  19 in total

Review 1.  Thirty years beyond discovery--clinical trials in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism.

Authors:  Kara R Vogel; Phillip L Pearl; William H Theodore; Robert C McCarter; Cornelis Jakobs; K Michael Gibson
Journal:  J Inherit Metab Dis       Date:  2012-06-28       Impact factor: 4.982

Review 2.  Subthalamic nucleus involvement in children: a neuroimaging pattern-recognition approach.

Authors:  Thangamadhan Bosemani; Cristina Anghelescu; Eugen Boltshauser; Alexander H Hoon; Phillip L Pearl; Dana Craiu; Michael V Johnston; Thierry A G M Huisman; Andrea Poretti
Journal:  Eur J Paediatr Neurol       Date:  2013-10-09       Impact factor: 3.140

3.  Succinic semialdehyde dehydrogenase deficiency: GABAB receptor-mediated function.

Authors:  Andrea Buzzi; Ying Wu; Marina V Frantseva; Jose L Perez Velazquez; Miguel A Cortez; Chun C Liu; Li Q Shen; K Michael Gibson; O Carter Snead
Journal:  Brain Res       Date:  2006-05-02       Impact factor: 3.252

Review 4.  Inherited disorders of gamma-aminobutyric acid metabolism and advances in ALDH5A1 mutation identification.

Authors:  Phillip L Pearl; Mahsa Parviz; Kara Vogel; John Schreiber; William H Theodore; K Michael Gibson
Journal:  Dev Med Child Neurol       Date:  2014-12-29       Impact factor: 5.449

Review 5.  The multiple genetic causes of central hypothyroidism.

Authors:  Luca Persani; Marco Bonomi
Journal:  Best Pract Res Clin Endocrinol Metab       Date:  2017-04-17       Impact factor: 4.690

6.  Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies.

Authors:  Mahsa Parviz; Kara Vogel; K Michael Gibson; Phillip L Pearl
Journal:  J Pediatr Epilepsy       Date:  2014-11-25

Review 7.  Succinic semialdehyde dehydrogenase deficiency in children and adults.

Authors:  Phillip L Pearl; Edward J Novotny; Maria T Acosta; Cornelis Jakobs; K Michael Gibson
Journal:  Ann Neurol       Date:  2003       Impact factor: 10.422

8.  Clinical spectrum of succinic semialdehyde dehydrogenase deficiency.

Authors:  P L Pearl; K M Gibson; M T Acosta; L G Vezina; W H Theodore; M A Rogawski; E J Novotny; A Gropman; J A Conry; G T Berry; M Tuchman
Journal:  Neurology       Date:  2003-05-13       Impact factor: 9.910

9.  Redox-switch modulation of human SSADH by dynamic catalytic loop.

Authors:  Yeon-Gil Kim; Sujin Lee; Oh-Sin Kwon; So-Young Park; Su-Jin Lee; Bum-Joon Park; Kyung-Jin Kim
Journal:  EMBO J       Date:  2009-03-19       Impact factor: 11.598

10.  Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency.

Authors:  Shinjiro Akaboshi; Boris M Hogema; Andrea Novelletto; Patrizia Malaspina; Gajja S Salomons; George D Maropoulos; Cornelis Jakobs; Markus Grompe; K Michael Gibson
Journal:  Hum Mutat       Date:  2003-12       Impact factor: 4.878
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