{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,11]],"date-time":"2025-12-11T20:14:01Z","timestamp":1765484041410,"version":"3.37.3"},"reference-count":7,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2016,7,4]],"date-time":"2016-07-04T00:00:00Z","timestamp":1467590400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2016,7,4]],"date-time":"2016-07-04T00:00:00Z","timestamp":1467590400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2016,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Gamma\u2010aminobutyric acid transaminase (GABA\u2010T) deficiency is an autosomal recessive disorder reported in only three unrelated families. It is caused by mutations in the <jats:italic>ABAT<\/jats:italic> gene, which encodes 4\u2010aminobutyrate transaminase, an enzyme of GABA catabolism and mitochondrial nucleoside salvage. We report the case of a boy, deceased at 12 months of age, with early\u2010onset epileptic encephalopathy, severe psychomotor retardation, hypotonia, lower\u2010limb hyporeflexia, central hypoventilation, and rapid increase in weight and, to a lesser rate, length and head circumference. He presented signs of premature pubarche, thermal instability, and water\u2013electrolyte imbalance. Serum total testosterone was elevated (43.3 ng\/dl; normal range &lt;16), as well as serum growth hormone (7.7 ng\/ml; normal range &lt;1). Brain magnetic resonance imaging (MRI) showed decreased myelination and generalized brain atrophy, later confirmed by post\u2010mortem examination. <jats:italic>ABAT<\/jats:italic> gene sequencing was performed post\u2010mortem, identifying a homozygous variant c.888G\u2009&gt;\u2009T (p.Gln296His),not previously described. In vitro analysis concluded that this variant is pathogenic. The clinical features of this patient are similar to those reported so far in GABA\u2010T deficiency. However, distinct mutations may have a different effect on enzymatic activity, which potentially could lead to a variable clinical outcome. Clinical investigation aiming for a diagnosis should not end with the patient's death, as it may allow a more precise genetic counselling for the family.<\/jats:p>","DOI":"10.1007\/s10545-016-9951-z","type":"journal-article","created":{"date-parts":[[2016,7,4]],"date-time":"2016-07-04T06:33:50Z","timestamp":1467614030000},"page":"743-747","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Phenotyping GABA transaminase deficiency: a case description and literature review"],"prefix":"10.1002","volume":"39","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8512-7582","authenticated-orcid":false,"given":"Pedro","family":"Louro","sequence":"first","affiliation":[{"name":"Centro Hospitalar e Universit\u00e1rio de Coimbra Praceta Prof. Mota Pinto Coimbra 3000\u2010075 Portugal"}]},{"given":"Lina","family":"Ramos","sequence":"additional","affiliation":[{"name":"Centro Hospitalar e Universit\u00e1rio de Coimbra Praceta Prof. Mota Pinto Coimbra 3000\u2010075 Portugal"}]},{"given":"Concei\u00e7\u00e3o","family":"Robalo","sequence":"additional","affiliation":[{"name":"Centro Hospitalar e Universit\u00e1rio de Coimbra Praceta Prof. Mota Pinto Coimbra 3000\u2010075 Portugal"}]},{"given":"C\u00e2ndida","family":"Cancelinha","sequence":"additional","affiliation":[{"name":"Centro Hospitalar e Universit\u00e1rio de Coimbra Praceta Prof. Mota Pinto Coimbra 3000\u2010075 Portugal"}]},{"given":"Alexandra","family":"Dinis","sequence":"additional","affiliation":[{"name":"Centro Hospitalar e Universit\u00e1rio de Coimbra Praceta Prof. Mota Pinto Coimbra 3000\u2010075 Portugal"}]},{"given":"Ricardo","family":"Veiga","sequence":"additional","affiliation":[{"name":"Centro Hospitalar e Universit\u00e1rio de Coimbra Praceta Prof. Mota Pinto Coimbra 3000\u2010075 Portugal"}]},{"given":"Raquel","family":"Pina","sequence":"additional","affiliation":[{"name":"Centro Hospitalar e Universit\u00e1rio de Coimbra Praceta Prof. Mota Pinto Coimbra 3000\u2010075 Portugal"}]},{"given":"Olinda","family":"Rebelo","sequence":"additional","affiliation":[{"name":"Centro Hospitalar e Universit\u00e1rio de Coimbra Praceta Prof. Mota Pinto Coimbra 3000\u2010075 Portugal"}]},{"given":"Ana","family":"Pop","sequence":"additional","affiliation":[{"name":"Metabolic Unit, Department of Clinical Chemistry VU University Medical Center Neuroscience Campus Amsterdam Amsterdam The Netherlands"}]},{"given":"Lu\u00edsa","family":"Diogo","sequence":"additional","affiliation":[{"name":"Centro Hospitalar e Universit\u00e1rio de Coimbra Praceta Prof. Mota Pinto Coimbra 3000\u2010075 Portugal"}]},{"given":"Gajja S.","family":"Salomons","sequence":"additional","affiliation":[{"name":"Metabolic Unit, Department of Clinical Chemistry VU University Medical Center Neuroscience Campus Amsterdam Amsterdam The Netherlands"}]},{"given":"Paula","family":"Garcia","sequence":"additional","affiliation":[{"name":"Centro Hospitalar e Universit\u00e1rio de Coimbra Praceta Prof. Mota Pinto Coimbra 3000\u2010075 Portugal"}]}],"member":"311","published-online":{"date-parts":[[2016,7,4]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cmet.2015.02.008"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2008-1052362"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01800202"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.A2902"},{"issue":"1","key":"e_1_2_7_6_1","first-page":"S315","article-title":"Model system for fast in vitro analysis of GABA\u2010T missense variants [abstract]","volume":"38","author":"Pop A","year":"2015","journal-title":"J Inherit Metab Dis"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/molehr\/4.8.769"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-009-9022-9"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10545-016-9951-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10545-016-9951-z\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-016-9951-z","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T04:22:02Z","timestamp":1694751722000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-016-9951-z"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,7,4]]},"references-count":7,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2016,9]]}},"alternative-id":["10.1007\/s10545-016-9951-z"],"URL":"https:\/\/doi.org\/10.1007\/s10545-016-9951-z","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"type":"print","value":"0141-8955"},{"type":"electronic","value":"1573-2665"}],"subject":[],"published":{"date-parts":[[2016,7,4]]}}}