{"id":3837,"date":"2023-12-20T21:21:00","date_gmt":"2023-12-20T21:21:00","guid":{"rendered":"https:\/\/www.osmosis.org\/blog\/?p=3837"},"modified":"2025-10-01T11:39:35","modified_gmt":"2025-10-01T19:39:35","slug":"usmle-step-1-question-of-the-day-sleep-episodes","status":"publish","type":"post","link":"https:\/\/www.osmosis.org\/blog\/usmle-step-1-question-of-the-day-sleep-episodes","title":{"rendered":"USMLE\u00ae Step 1 Question of the Day: Sleep episodes"},"content":{"rendered":"<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_80 ez-toc-wrap-center counter-hierarchy ez-toc-counter ez-toc-custom ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">In This Article<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.osmosis.org\/blog\/usmle-step-1-question-of-the-day-sleep-episodes\/#The_correct_answer_to_todays_USMLE%C2%AE_Step_1_Question_is%E2%80%A6\" >The correct answer to today&#8217;s USMLE\u00ae Step 1 Question is&#8230;<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.osmosis.org\/blog\/usmle-step-1-question-of-the-day-sleep-episodes\/#D_Conversion_of_pyruvate_to_acetyl-CoA\" >D. Conversion of pyruvate to acetyl-CoA<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.osmosis.org\/blog\/usmle-step-1-question-of-the-day-sleep-episodes\/#Incorrect_answer_explanations\" >Incorrect answer explanations<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.osmosis.org\/blog\/usmle-step-1-question-of-the-day-sleep-episodes\/#A_Conversion_of_glucose_to_glucose-6-phosphate\" >A. Conversion of glucose to glucose-6-phosphate<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.osmosis.org\/blog\/usmle-step-1-question-of-the-day-sleep-episodes\/#B_Reduction_of_NADP_plus_to_NADPH\" >B. Reduction of NADP+ plus to NADPH&nbsp;<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.osmosis.org\/blog\/usmle-step-1-question-of-the-day-sleep-episodes\/#C_Phosphorylation_of_fructose_to_fructose-1-phosphate\" >C. Phosphorylation of fructose to fructose-1-phosphate<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.osmosis.org\/blog\/usmle-step-1-question-of-the-day-sleep-episodes\/#E_Breakdown_of_fructose-1-phosphate_to_glyceraldehyde\" >E. Breakdown of fructose-1-phosphate to glyceraldehyde<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.osmosis.org\/blog\/usmle-step-1-question-of-the-day-sleep-episodes\/#Main_Explanation\" >Main Explanation<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.osmosis.org\/blog\/usmle-step-1-question-of-the-day-sleep-episodes\/#Major_Takeaway\" >Major Takeaway<\/a><\/li><\/ul><\/nav><\/div>\n\n<p class=\"wp-block-paragraph\"><strong><em>This week, we are sharing another USMLE\u00ae Step 1-style practice question to test your knowledge of medical topics. Today&#8217;s case focuses on a 6-month-old infant facing poor weight gain, weak cry, and muscle hypotonia. With genetic work-up pointing to a PDHA1 gene mutation and elevated serum lactate levels, can you identify the normal function of the enzyme likely deficient in this challenging pediatric presentation? Test your diagnostic skills with this USMLE Step 1 question.<\/em><\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">A 6-month-old male infant is brought to the pediatrician for evaluation of poor weight gain. The patient was born at 38-weeks gestational age via an uncomplicated vaginal delivery. According to his parents, the patient has had poor feeding, a weak cry, and appears more frail than other children of a similar age. The patient is at the 15th percentile for length and 5th percentile for weight. Temperature is 37.0\u00b0C (98.6\u00b0F), blood pressure is 95\/50 mmHg, and pulse is 102\/min. Widespread muscle hypotonia is noted on physical examination. Laboratory testing reveals elevated serum lactate and alanine levels. Further genetic work-up reveals a mutation in the PDHA1 gene. Which of the following best describes the normal function of the enzyme likely deficient in this patient\u2019s condition?<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>A. Conversion of glucose to glucose-6-phosphate<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>B. Reduction of NADP+ plus to NADPH<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>C. Phosphorylation of fructose to fructose-1-phosphate<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>D. Conversion of pyruvate to acetyl-CoA<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>E. Breakdown of fructose-1-phosphate to glyceraldehyde<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Scroll down for the correct answer!<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"The_correct_answer_to_todays_USMLE%C2%AE_Step_1_Question_is%E2%80%A6\"><\/span>The correct answer to today&#8217;s USMLE\u00ae Step 1 Question is&#8230;<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"D_Conversion_of_pyruvate_to_acetyl-CoA\"><\/span>D. Conversion of pyruvate to acetyl-CoA<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">Before we get to the Main Explanation, let&#8217;s look at the incorrect answer explanations. Skip to the bottom if you want to see the correct answer right away!<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Incorrect_answer_explanations\"><\/span>Incorrect answer explanations<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"A_Conversion_of_glucose_to_glucose-6-phosphate\"><\/span>A. Conversion of glucose to glucose-6-phosphate<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Incorrect:<\/strong>&nbsp;Hexokinase and glucokinase are involved in converting glucose to glucose-6-phosphate. A deficiency in either of these enzymes would result in elevated serum glucose levels, as opposed to lactate and alanine levels.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"B_Reduction_of_NADP_plus_to_NADPH\"><\/span>B. Reduction of NADP+ plus to NADPH&nbsp;<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Incorrect:<\/strong>&nbsp;Glucose-6-phosphate dehydrogenase (G6PD) is responsible for converting NADP+ to NADPH. G6PD deficiency predisposes patients to hemolytic anemia when exposed to oxidative stress. The condition would not manifest with muscle hypotonia, poor weight gain, or a weak cry.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"C_Phosphorylation_of_fructose_to_fructose-1-phosphate\"><\/span>C. Phosphorylation of fructose to fructose-1-phosphate<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Incorrect:<\/strong>&nbsp;Fructokinase converts fructose to fructose-1-phosphate. A defect in this enzyme would result in essential fructosuria. The condition is largely asymptomatic, and laboratory testing would instead demonstrate elevated serum and urine fructose levels.&nbsp;<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"E_Breakdown_of_fructose-1-phosphate_to_glyceraldehyde\"><\/span>E. Breakdown of fructose-1-phosphate to glyceraldehyde<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Incorrect:<\/strong>&nbsp;Aldolase B is responsible for breaking down fructose-1-phosphate into glyceraldehyde and dihydroxyacetone phosphate. Deficiency of this enzyme would cause hereditary fructose intolerance, which manifests with cirrhosis, jaundice, and vomiting. Symptoms generally begin only after sources of fructose (e.g., fruits, juices) are introduced into a child\u2019s diet at around 6 months of age.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Main_Explanation\"><\/span><strong>Main Explanation<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">This patient is presenting with hypotonia, a weak cry, and poor weight gain. Laboratory testing demonstrates elevated alanine and lactate levels along with a&nbsp;<em>PDHA1<\/em>&nbsp;gene mutation. In combination, these findings are concerning for&nbsp;<strong>pyruvate dehydrogenase complex<\/strong>&nbsp;(PDC)&nbsp;<strong>deficiency<\/strong>.&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">PDC deficiency is an&nbsp;<strong>X-linked&nbsp;<\/strong><strong>recessive<\/strong>&nbsp;condition caused by mutations in the&nbsp;<strong><em>PDHA1<\/em>&nbsp;gene<\/strong>. PDC utilizes the cofactors thiamine, lipoic acid, CoA, FAD, and NAD+ to convert&nbsp;<strong>pyruvate into acetyl-CoA<\/strong>, which enters the Krebs cycle to produce ATP. In PDC deficiency, acetyl-CoA production is impaired, and there is reduced ATP synthesis. Hence, the condition primarily affects cells with high energy requirements, such as neurons and myocytes. At the same time, pyruvate accumulates and is converted into&nbsp;<strong>lactate<\/strong>&nbsp;and&nbsp;<strong>alanine<\/strong>.&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Symptoms of PDC deficiency typically begin during infancy and include&nbsp;<strong>lethargy<\/strong>,&nbsp;<strong>hypotonia<\/strong>, and&nbsp;<strong>poor feeding<\/strong>. In addition, PDC deficiency may lead to&nbsp;<strong>developmental delay<\/strong>, intellectual disability, and&nbsp;<strong>seizures<\/strong>.&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Laboratory testing will demonstrate\u00a0<strong>elevated lactate and alanine\u00a0<\/strong>levels. Treatment consists of adopting a\u00a0<strong>ketogenic diet<\/strong>, which is a diet low in carbohydrates and high in fat and ketogenic amino acids. This diet results in the generation of ketone bodies, which can be used as an alternative energy source by body tissues.<\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"635\" height=\"354\" src=\"https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/image_b4005e.png\" alt=\"pyruvate dehydrogenase complex (PDC) deficiency\" class=\"wp-image-3839\" srcset=\"https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/image_b4005e.png 635w, https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/image_b4005e.png?resize=300,167 300w\" sizes=\"auto, (max-width: 635px) 100vw, 635px\" \/><\/figure>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Major_Takeaway\"><\/span>Major Takeaway<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Pyruvate dehydrogenase complex<\/strong>&nbsp;(PDC)&nbsp;<strong>deficiency<\/strong>&nbsp;is an<strong>&nbsp;X-linked recessiv<\/strong>e disorder characterized by hypotonia, poor feeding, developmental and intellectual delay, and seizures. Laboratory testing will demonstrate&nbsp;<strong>elevated lactate and alanine<\/strong>&nbsp;levels. Treatment involves adhering to a&nbsp;<strong>ketogenic diet<\/strong>. &nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>References<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Gupta, N., Rutledge, C. (2019) Pyruvate dehydrogenase complex deficiency: An unusual cause of recurrent lactic acidosis in a paediatric critical care unit. The Journal of Critical Care Medicine. 5(2), 71-75. Doi: 10.2478\/jccm-2019-0012.&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Haddad, A., Mohiuddin, S.S. (2020) \u201cBiochemistry, citric acid cycle\u201d. StatPearls [Internet]. Web Address:&nbsp;<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK541072\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK541072\/<\/a>.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong><em>&nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp;________________________<\/em><\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><em><strong>Want more USMLE\u00ae Step 1 practice questions? Try Osmosis by Elsevier today! Access your\u00a0<em><strong><a href=\"https:\/\/www.osmosis.org\/login?type=create\" target=\"_blank\" rel=\"noreferrer noopener\">free trial<\/a><\/strong><\/em>\u00a0and find out why millions of current and future clinicians and caregivers love learning with us.<\/strong><\/em><\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><a href=\"https:\/\/www.osmosis.org\/ultimate-guide\/usmle-step-1\"><img loading=\"lazy\" decoding=\"async\" width=\"700\" height=\"250\" src=\"https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/image_23c162.png\" alt=\"Osmosis sign up ad\" class=\"wp-image-3840\" srcset=\"https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/image_23c162.png 700w, https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/image_23c162.png?resize=300,107 300w\" sizes=\"auto, (max-width: 700px) 100vw, 700px\" \/><\/a><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\"><a href=\"https:\/\/www.osmosis.org\/ultimate-guide\/usmle-step-1\" target=\"_blank\" rel=\"noreferrer noopener\"><\/a><br><em><sub>The United States Medical Licensing Examination (USMLE\u00ae) is a joint program of the Federation of State Medical Boards (FSMB\u00ae) and National Board of Medical Examiners (NBME\u00ae). Osmosis is not affiliated with NBME nor FSMB.\u00a0<\/sub><\/em><\/p>\n","protected":false},"excerpt":{"rendered":"<p>This week, we are sharing another USMLE\u00ae Step 1-style practice question to test your knowledge of medical topics. Today&#8217;s case focuses on a 6-month-old infant facing poor weight gain, weak cry, and muscle hypotonia. With genetic work-up pointing to a PDHA1 gene mutation and elevated serum lactate levels, can you identify the normal function of [&hellip;]<\/p>\n","protected":false},"author":202,"featured_media":3838,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_jetpack_newsletter_access":"","_jetpack_dont_email_post_to_subs":false,"_jetpack_newsletter_tier_id":0,"_jetpack_memberships_contains_paywalled_content":false,"_jetpack_feature_clip_id":0,"_jetpack_memberships_contains_paid_content":false,"footnotes":"","jetpack_post_was_ever_published":false},"categories":[27,20,1366,1369,44],"tags":[],"class_list":["post-3837","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-medicine","category-exam-prep","category-questions","category-step-1-questions","category-step-1"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v23.6 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>USMLE\u00ae Step 1 Question of the Day: Sleep episodes - Osmosis Blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.osmosis.org\/blog\/usmle-step-1-question-of-the-day-sleep-episodes\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"USMLE\u00ae Step 1 Question of the Day: Sleep episodes - Osmosis Blog\" \/>\n<meta property=\"og:description\" content=\"This week, we are sharing another USMLE\u00ae Step 1-style practice question to test your knowledge of medical topics. Today&#8217;s case focuses on a 6-month-old infant facing poor weight gain, weak cry, and muscle hypotonia. With genetic work-up pointing to a PDHA1 gene mutation and elevated serum lactate levels, can you identify the normal function of [&hellip;]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/www.osmosis.org\/blog\/usmle-step-1-question-of-the-day-sleep-episodes\" \/>\n<meta property=\"og:site_name\" content=\"Osmosis Blog\" \/>\n<meta property=\"article:published_time\" content=\"2023-12-20T21:21:00+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2025-10-01T19:39:35+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/2024-09-19T152206.380.webp\" \/>\n\t<meta property=\"og:image:width\" content=\"1080\" \/>\n\t<meta property=\"og:image:height\" content=\"1080\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/webp\" \/>\n<meta name=\"author\" content=\"Marina Horiates Kerekes, MD &amp; Team\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\/\/schema.org\",\"@graph\":[{\"@type\":[\"Article\",\"BlogPosting\"],\"@id\":\"https:\/\/www.osmosis.org\/blog\/usmle-step-1-question-of-the-day-sleep-episodes#article\",\"isPartOf\":{\"@id\":\"https:\/\/www.osmosis.org\/blog\/usmle-step-1-question-of-the-day-sleep-episodes\"},\"author\":{\"name\":\"Marina Horiates Kerekes, MD &amp; 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