title: Hypoglycemia in association with various organic and amino acid disorders.
abstract: A number of organic and amino acidemias, particularly those that involve the oxidation of fatty acids, cause hypoglycemia intermittently. This may be associated with distrubances of acid base equilibrium and accumulation of lactic acid and/or ketone bodies. When such diseases are not diagnosed rapidly, they might lead to neurological crippling and, at times, death. As a group, these disorders involve more than 1 organ and their phenotypic expression may include all or a single system. The symptoms may appear soon after birth or as late as 1 year of age. Their early recognition and rapid intervention provide rewarding clinical outcome. With the recent advances in diagnostic techniques, such as the introduction of tandem mass spectrometry (MS), screening for these diseases now can be performed because rapid identification on a large scale is possible. The phenotypes, mutations involved, pathognomonic laboratory findings, prognosis, and treatment procedures available have been reviewed for major diseases.
authors.affiliation: King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
authors.forename: P T
authors.initials: PT
authors.lastname: Ozand
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications*; D000597:Amino Acids, Branched-Chain / Q000378:metabolism; D005227:Fatty Acids / Q000378:metabolism; D006801:Humans; D007003:Hypoglycemia / Q000209:etiology*; D007231:Infant, Newborn; D008052:Lipid Metabolism, Inborn Errors / Q000150:complications*
chemical_list: D000597:Amino Acids, Branched-Chain; D005227:Fatty Acids