Literature DB >> 16788854

Succinic semialdehyde dehydrogenase (SSADH) deficiency: Molecular analysis in a South American family.

Aida Lemes1, Paola Blasi, Gabriel Gonzales, Maria E Russi, Roberto Quadrelli, Andrea Novelletto, Patrizia Malaspina.   

Abstract

We report the clinical, biochemical and molecular findings on the first documented patient with 4-hydroxybutyric aciduria (4-HBA, McKusick 271980) from Uruguay. The patient displayed a severe picture and turned out to be homozygous for a mutation (c.1226G < A) previously shown to be associated with null enzyme activity.

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Year:  2006        PMID： 16788854     DOI： 10.1007/s10545-006-0277-0

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


  6 in total

Review 1.  Succinic semialdehyde dehydrogenase: biochemical-molecular-clinical disease mechanisms, redox regulation, and functional significance.

Authors:  Kyung-Jin Kim; Phillip L Pearl; Kimmo Jensen; O Carter Snead; Patrizia Malaspina; Cornelis Jakobs; K Michael Gibson
Journal:  Antioxid Redox Signal       Date:  2011-04-10       Impact factor: 8.401

2.  SSADH deficiency in an Italian family: a novel ALDH5A1 gene mutation affecting the succinic semialdehyde substrate binding site.

Authors:  Sara Leo; Concetta Capo; Bianca Maria Ciminelli; Federico Iacovelli; Giovanna Menduti; Silvia Funghini; Maria Alice Donati; Mattia Falconi; Luisa Rossi; Patrizia Malaspina
Journal:  Metab Brain Dis       Date:  2017-06-29       Impact factor: 3.584

3.  Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency.

Authors:  Savita Verma Attri; Pratibha Singhi; Natrujee Wiwattanadittakul; Jyotindra N Goswami; Naveen Sankhyan; Gajja S Salomons; Jean-Baptiste Roullett; Ryan Hodgeman; Mahsa Parviz; K Michael Gibson; Phillip L Pearl
Journal:  JIMD Rep       Date:  2016-11-05

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.  Succinic semialdehyde dehydrogenase deficiency (SSADHD): Pathophysiological complexity and multifactorial trait associations in a rare monogenic disorder of GABA metabolism.

Authors:  P Malaspina; J-B Roullet; P L Pearl; G R Ainslie; K R Vogel; K M Gibson
Journal:  Neurochem Int       Date:  2016-06-14       Impact factor: 3.921

Review 6.  Comparative genomics of aldehyde dehydrogenase 5a1 (succinate semialdehyde dehydrogenase) and accumulation of gamma-hydroxybutyrate associated with its deficiency.

Authors:  Patrizia Malaspina; Matthew J Picklo; C Jakobs; O Carter Snead; K Michael Gibson
Journal:  Hum Genomics       Date:  2009-01       Impact factor: 4.639
  6 in total

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