{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T13:54:24Z","timestamp":1779371664526,"version":"3.53.1"},"reference-count":32,"publisher":"Wiley","license":[{"start":{"date-parts":[[2022,9,13]],"date-time":"2022-09-13T00:00:00Z","timestamp":1663027200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genetics Research"],"published-print":{"date-parts":[[2022,9,13]]},"abstract":"<jats:p>Background. Glycogen storage disease type 1a (GSD1a) is a rare autosomal recessive metabolic disorder characterized by hypoglycaemia, growth retardation, lactic acidosis, hepatomegaly, hyperlipidemia, and nephromegaly. GSD1a is caused by a mutation in the G6PC gene encoding glucose-6-phosphatase (G6Pase); an enzyme that catalyses the hydrolysis of glucose-6-phosphate (G6P) to phosphate and glucose. Objective. To elaborate on the clinical findings, biochemical data, molecular genetic analysis, and short-term prognosis of 13 GSD1a patients in Malaysia. Methods. The information about 13 clinically classified GSD1a patients was retrospectively studied. The G6PC mutation analysis was performed by PCR-DNA sequencing. Results. Patients were presented with hepatomegaly (92%), hypoglycaemia (38%), poor weight gain (23%), and short stature (15%). Mutation analysis revealed nine heterozygous mutations; eight previously reported mutations (c.155\u2009A\u2009&gt;\u2009T, c.209\u2009G\u2009&gt;\u2009A, c.226\u2009A\u2009&gt;\u2009T, c.248\u2009G\u2009&gt;\u2009A, c.648\u2009G\u2009&gt;\u2009T, c.706\u2009T\u2009&gt;\u2009A, c.1022\u2009T\u2009&gt;\u2009A, c.262delG) and a novel mutation (c.325\u2009T\u2009&gt;\u2009C). The most common mutation found in Malaysian patients was c.648\u2009G\u2009&gt;\u2009T in ten patients (77%) of mostly Malay ethnicity, followed by c.248\u2009G\u2009&gt;\u2009A in 4 patients of Chinese ethnicity (30%). A novel missense mutation (c.325\u2009T\u2009&gt;\u2009C) was predicted to be disease-causing by various in silico software. Conclusions. The establishment of G6PC molecular genetic testing will enable the detection of presymptomatic patients, assisting in genetic counselling while avoiding the invasive methods of liver biopsy.<\/jats:p>","DOI":"10.1155\/2022\/5870092","type":"journal-article","created":{"date-parts":[[2022,9,13]],"date-time":"2022-09-13T18:35:38Z","timestamp":1663094138000},"page":"1-7","source":"Crossref","is-referenced-by-count":6,"title":["Molecular, Biochemical, and Clinical Characterization of Thirteen Patients with Glycogen Storage Disease 1a in Malaysia"],"prefix":"10.1155","volume":"2022","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8611-5321","authenticated-orcid":true,"given":"Siti Aishah","family":"Abdul Wahab","sequence":"first","affiliation":[{"name":"Molecular Diagnostics Unit, Specialised Diagnostic Centre, Institute for Medical Research, National Institute of Health, Ministry of Health, Jalan Pahang 50586, Kuala Lumpur, Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3376-4627","authenticated-orcid":true,"given":"Yusnita","family":"Yakob","sequence":"additional","affiliation":[{"name":"Molecular Diagnostics Unit, Specialised Diagnostic Centre, Institute for Medical Research, National Institute of Health, Ministry of Health, Jalan Pahang 50586, Kuala Lumpur, Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7200-3102","authenticated-orcid":true,"given":"Mohd Khairul Nizam","family":"Mohd Khalid","sequence":"additional","affiliation":[{"name":"IEM & Genetic Unit, Nutrition Metabolic and Cardiovascular Research Centre, Institute for Medical Research, National Institute of Health, Ministry of Health, Kuala Lumpur, Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noraishah","family":"Ali","sequence":"additional","affiliation":[{"name":"Department of Genetics, Hospital Kuala Lumpur, Ministry of Health, Kuala Lumpur, Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0294-6823","authenticated-orcid":true,"given":"Huey Yin","family":"Leong","sequence":"additional","affiliation":[{"name":"Department of Genetics, Hospital Kuala Lumpur, Ministry of Health, Kuala Lumpur, Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2396-1686","authenticated-orcid":true,"given":"Lock Hock","family":"Ngu","sequence":"additional","affiliation":[{"name":"Department of Genetics, Hospital Kuala Lumpur, Ministry of Health, Kuala Lumpur, Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","reference":[{"key":"1","first-page":"182","article-title":"Glycogen storage disease: report of 17 cases from southern India","volume":"25","author":"A. 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