Download Case Study on Management of Metabolic Disease: Maple Syrup Urine Disease (MSUD) and more Slides Pediatrics in PDF only on Docsity! Management of Metabolic Disease Docsity.com Case Study--JC 11.5 mo male with MSUD presents to metabolic clinic for continued mgt of his IEM. PMHx: FT, normal at birth. Poor feeding and increased lethargy 1st week of life. Frequent calls to MD--mother told this was normal behavior DOL 7 to 10--continued poor feeding and lethargy; was taken to the pediatrician and placed on Prosobee formula DOL 11--unarousable. Admitted to hospital for dehydration and begun on nasogastric tube feeds of Similac. Admit labs: WBC 12.0, UA 1+ ketones, CO2 19, anion gap 8, glucose 63. Sepsis workup begun Docsity.com Maple Syrup Urine Disease • Autosomal recessive inheritance • Infants are normal at birth • In severe forms, seizures, apnea, and death can occur within 10 days of birth • Branched-chain α-ketoacid dehydrogenase complex (BCKAD) deficiency • Elevated levels of branched-chain ketoacids, their amino acid precursors, and alloisoleucine Docsity.com Treatment • These children decompensate within the first few days of life – Delayed or missed dx leads to coma and death • Goal is to identify affected infants before they crash – Not all states screen for MSUD – Screen is often not back before the child becomes symptomatic Docsity.com Treatment cont: • Diagnose and initiate treatment as soon as possible – Emergency therapy – Life-time dietary treatment – Liver transplantation – Gene therapy and others are still some years in the future Docsity.com • PKU – 10 mo old – A set of 2 yr old identical twins, former 25 wk premmies – 2 high school students • Homocystinemia – 1 high school student • MCAD – 12 mo old dx on NBS Our population changes constantly and you never know what you might get! Docsity.com – Good possibility that one or more of these kids will be admitted to the ER or the Ward on YOUR watch Docsity.com Overview • Newborn Screening • Dietary treatment • Emergency management • Long term issues Docsity.com Brief History of NBS • Began in 1963 in MA with screening for PKU – Guthrie developed a bacterial inhibition assay for phenylalanine using a dried blood filter paper card. • By 1967, mandatory PKU testing in most states • 70’s and 80’s, additional tests from the “Guthrie” card were developed (galactosemia, MSUD, biotinidase, homocystinemia, congenital hypothyroidism, CAH) – Up to 8 diseases were included in NBS (varied by state) • 1990’s, tandum mass spectrometry technology was developed which allows for detection of a greater number of disorders of amino acid, organic acid, and fatty acid metabolism (see handout) Docsity.com Newborn Screening is State Public Health Activity • Federal govt recommends screening for PKU, congenital hypothyroidism, and sickle cell disease • Each state is responsible for designing and implementing its own program – Which disorders to include in the screen – Whether parental consent is required • 33 states allow exemptions for religious reasons 13 states allow exemptions for any reason – Whether they will use a state-run lab or contract out to a private lab Docsity.com • Just because TMS technology is used in a state, it does not mean that that state performs the “expanded” screen. Docsity.com Why Does Dietary Treatment Keep these Kids Alive and Protect Their Brains? Docsity.com Because…... • Biochemical defect is known – absent or minimal production of enzyme system that breaks down dietary constituents • With the amino acidopathies (MSUD, MMA, PKU), defect involves dietary constituents that are “essential” – Restrict the precursors to the toxic metabolites • We can use consequences of the defect to design our therapy Docsity.com What Happens in PKU? Phenylalanine tyrosine DOPA, NE, EPI, Melanin Absent phenylalanine hydroxylase Food Catabolized tissue Docsity.com
