{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T06:13:51Z","timestamp":1783577631970,"version":"3.55.0"},"reference-count":223,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2022,9,2]],"date-time":"2022-09-02T00:00:00Z","timestamp":1662076800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Universiti Malaysia Sabah Project","award":["DKC 2009"],"award-info":[{"award-number":["DKC 2009"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Biology"],"abstract":"<jats:p>Advances in data acquisition via high resolution genomic, transcriptomic, proteomic and metabolomic platforms have driven the discovery of the underlying factors associated with metabolic disorders (MD) and led to interventions that target the underlying genetic causes as well as lifestyle changes and dietary regulation. The review focuses on fourteen of the most widely studied inherited MD, which are familial hypercholesterolemia, Gaucher disease, Hunter syndrome, Krabbe disease, Maple syrup urine disease, Metachromatic leukodystrophy, Mitochondrial encephalopathy lactic acidosis stroke-like episodes (MELAS), Niemann-Pick disease, Phenylketonuria (PKU), Porphyria, Tay-Sachs disease, Wilson\u2019s disease, Familial hypertriglyceridemia (F-HTG) and Galactosemia based on genome wide association studies, epigenetic factors, transcript regulation, post-translational genetic modifications and biomarker discovery through metabolomic studies. We will delve into the current approaches being undertaken to analyze metadata using bioinformatic approaches and the emerging interventions using genome editing platforms as applied to animal models.<\/jats:p>","DOI":"10.3390\/biology11091308","type":"journal-article","created":{"date-parts":[[2022,9,5]],"date-time":"2022-09-05T20:48:25Z","timestamp":1662410905000},"page":"1308","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Current Understanding on the Genetic Basis of Key Metabolic Disorders: A Review"],"prefix":"10.3390","volume":"11","author":[{"given":"Kenneth Francis","family":"Rodrigues","sequence":"first","affiliation":[{"name":"Biotechnology Research Institute, Universiti Malaysia Sabah, Kota Kinabalu 88400, Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8431-8486","authenticated-orcid":false,"given":"Wilson Thau Lym","family":"Yong","sequence":"additional","affiliation":[{"name":"Biotechnology Research Institute, Universiti Malaysia Sabah, Kota Kinabalu 88400, Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6867-0081","authenticated-orcid":false,"given":"Md. Safiul Alam","family":"Bhuiyan","sequence":"additional","affiliation":[{"name":"Biotechnology Research Institute, Universiti Malaysia Sabah, Kota Kinabalu 88400, Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3122-0463","authenticated-orcid":false,"given":"Shafiquzzaman","family":"Siddiquee","sequence":"additional","affiliation":[{"name":"Biotechnology Research Institute, Universiti Malaysia Sabah, Kota Kinabalu 88400, Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7520-1032","authenticated-orcid":false,"given":"Muhammad Dawood","family":"Shah","sequence":"additional","affiliation":[{"name":"Borneo Marine Research Institute, Universiti Malaysia Sabah, Kota Kinabalu 88400, Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1090-5295","authenticated-orcid":false,"given":"Balu Alagar","family":"Venmathi Maran","sequence":"additional","affiliation":[{"name":"Borneo Marine Research Institute, Universiti Malaysia Sabah, Kota Kinabalu 88400, Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,9,2]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1007\/s44197-021-00024-2","article-title":"Systematic Analysis of the Global, Regional and National Burden of Cardiovascular Diseases from 1990 to 2017","volume":"12","author":"Wang","year":"2021","journal-title":"J. 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