Revision Notes in Paediatrics for MRCPCH a py si catbors per cycle, releasing 2ceRY-COA fr ery Al formation (a-1,6lvcosiic bond) secre < + one adrenaline and gl production of Ketone bai) ® Frevct isis promoted by adrenaline 204 Bs, can be synthesized from aeeyiCony oe ps adding two carbons sequentially 10 the 7 AC ing of chain to release glucose fatty acid chain (lipogenesis). This Occurs main» hat ate the lve, adipose tissue, lactating manmary pr Pete ait branch pont ee NS nor dagee, the Kine. exert | acids cannot be synthesized by the body becag G@ 1 ofthe branch point the enzyme required to form double bonds beyoy oa rine carbons in length isnot present. The pring creel ty acids are Wolo (C1821 andy ee inolenic (C183) acids. Walnut oil used as ang * Sea sentetom ano ais which een chien en veylow-at des ‘amino group metabolized to urea ‘a ' carbon skeleton which has 2 worn metabolic fates: acetyl-CoA, retabol 2. APPROACH TO THE METABOLIC ¢ CASE 21CGieriane> Inbor errors of metabolism are individually rw but collectively they have an incidence of aoe per 800 bins, Autosomal recessive inbertane the most common. Exceptions include te flat ing: © Hiinked recessive: \esch-Nyhan sinstane Hunter syndrome, orithine transcaroampyase {Och deter. aby dscns adrenol © Arstosomal dominant poxpsias some recessive), familial hypercholesterolaem? fy Matlinet-miochonial DNA pi a ya because 0 ate impor omer ously nonspecific, 0 Ue 5, Re history, The secon ratMetabolic Medicine : (wong Imonication, ed ete ‘Key feature 3 symp re perio owe Sec Forside many v5 Dersst whe bo ake mack 4 sol peegny ANP) and ‘thee otal 7 Pecos steno, hw = RRP rete sctson it Bane wi lngeTaT a oihin) Urea cycle deft (UCD © Supa iolerances: galactose Energy insutficieney ‘Absence GL Symp nce end with srmecite OE OT symptom in congenital artic aren There i a spectrum of severty and some Ray Tae longer o decompensate ful Respaory chain dele © Pyanate metabolism dees preva dehydrogenase, pyruvate carboryiase) The group includes conditions tat presen oy thee isa delay in fet proviso, fa xan elects, and gucogensves and goxorergeoes _ delet these May ot pert ore rere cr longer, e.g, 1 Fatoxdationdecs -meduer- 25(Exominato pect (Gc exaniaon may reveal ow cus in may Ler eenerial amit omer ein, Da ee ter diabetic ket fetes ay spp cerain apse! Oia ae Rehigraesre See nly una wely gnsn exeons freew -2rc 9) OverPotonne inde NSUD, in which tre ns ses Four 0509 2G acd acd excretion ae ad i renal bar acids srt sata (ugha be cl en EDTAsample eal ue ined io cereal bong ircopsnchre, peed tins) calc gslacnsemia pera Cello eT cates x ioc, irene veins ato avaiable sample gine on, mica and chert spt y-Sehn survive happlyn 0 "severe darrboea ‘seme, Nemunn-Pik daeate, Soho tense saline inthe geo tails sophy Hers Gal Onsen 2 ol weekend at 4 ronal os Ja fee of sg ceed wt etna Sod Mente asta ht sce ee Peli ate tar Doncr fer eee ; Gaga onsen esc ri py en oy age Aa ip prominent aly Ovorcks ae] e key terms are outtined |IE ee i | 70 rmcety pry cole de. he cei atn he ecepien peg sent SS Peek Rodis jew se “Tet cen Chore Saar ame Cetin oa od ul a be Sta et Te lel tie nay AS scored ee oon, rpg te cause, and the lca ine 8 ipso er ene pares | iat private dey dognasedfceny titon when pie! ts aed = Fete es —— ong os i cla S Sor aes oe eel oe am See ae ‘Growth hormone ‘aid on Weating he npoaiveaer a lc pss Geter) Cerebrospinal fluid (CSF) lactate 5 raised in om a, oe een Fhondrit disorders central nervays swste nae of Se tie, Se ae es Sore Pies ea ala as a Sure: typeameanaia may reson poor ange me lenders cge8ts) pcre sample) ai delays in processing. soem dees 68 MCADO! level of ammonia may prove dsciminatory 25/6 530: ane Be sed (Bima aos M : foe Pia ammeniacncnratin | Tine 100 “Trae CoD iOn = rd ac ‘Weric etbeia UCD wea ole igo ae x oe es ce pew, NS 24 » x oA oh Hse-2oayglr Lef LCD‘of the newborn rized by very early onset usualy i feeding is uly estab- er iy But has an excel fod early. cause ype "fel coy ae Metabolic Medicine ‘© [succinylacetone - tyrosinaemia type | ‘© [dicarboxylic acids - ft oxidation defects, medlum-chain wiglycerde feds, mitochondrial (Aeglearnitines) Carte conjugates with acy-COA ‘intermediates proximal tothe block in fat oxidation detects. The Chain length of th aylaritines formed is hagnos- ti of where the block les, eg. medim-chain (MCAD), very kng.cain (VLCAD)-likewise, con jugaton wit organic acids allows diagnosis of Organic acidaemias, eg. propionycaritine. Total and fee canine levels can be_measred at the 3 fal oxidation defects and organic acioaemas, in camtine_palmtoitansierae deficiency 1 cet. Ss emer, lan camiine vansportes defects if Urate ‘Ura is the end-product of the breakdown of pu ised levels in plasma may indicate increased (eg, Lesch-Nyhan syndrome, GSD type 1 thabdomyolysis) or decreased excretion (famjial isvenile hyperuncaennic thy oF BNL Is a ee eee Because urate clearance in children is so efcent 7g seen in molybdenum colactor ‘ofa block i the conwession of yo» HAP oli sd acutel lly by re ted by ation of ssence o| Leg m 3 and often a loss of t tention, athe ma ver than Mer she, * 1 Puiactscsle bb + merit Disorder behaviour it) «typo ol delay SE ad eee priser sioen geal ees pion Wn cae tae INS RTHN Ssmith-Lemli-Opitz syndrome ‘ucapaysaccharidoses and macalipises Galacosaemia_ ot [ Sulphite oxidase deficiency, mabe colt, Ears coyonsel ip Tedory Bim ee tee are wie Purine and prime disordes somal assays for diferent presentations. 1 reurodegenertion panel includes Tay-Sachs ¢ fase, Sandhotl disease, Sly mucopolysacchai IMS Vil and mannose in plasma; Gui > Acute man loses, aryaulphatase A. deficiency, Kobe ) aR Gur) [aR Jan AR we Ge) [ae [ve + Es a) Oe fame [same me sal malakwa wie [a \| tysosommal Defeccs i ras dese, i ucoptahars dre — oan neA S-day-old breast-fed infant with deer deepening andi, oh Red reflexes are present. Glucose 3, in {normal < 50). INR 5.1. Septic screen: positive ood alee ‘Wilson disease Galactosaemia ‘Talwager syndrome ‘Medium chain acyl-Co4 dehydrogenase (MCAD) defieney ine transcarbamyiase (OTC) defeiency Organic acids: elevated @ and 4-hydr ‘mmol/mol creatinine (normal < toaphenieaae C3 ryamaryl acetoacetate hydroxylase def in.serum Tyrosine and Defects inthe biosynthesis of Melanin in the Melanocyzes from Tyrosine Sytosinase “ve Albinism -Tyrosinase-ve albinism -Chasiok east Hermansky.Puciak sye-Guthere te Fallre 2 tive - Developriertal lay (Hepatenes?y ~Depigrenteten isha eee - Aster Sen Biesence os ate Types 1 Generate SOccaaaes 2.00 |3.Fqat ——— el \,Pie rroniport delet which prevents the ‘fabio ofepeine fom sores with epotion of crystals inthe tHS26 DeeciaTanpet Det ofScached data denysrgerase A brn, fplasma AA meiMetabolic0p, BNR ‘Which ofthe following occur in homocystinuria? Arathoodactyly True 8 False cIncomest Lens dslocation $ Tue ‘gosomal recessive inhertance 9 True Osteoporosis @Tue cataracts @tve OFalse « © Fale Falee < OFalse 00-07" 7 > Vows babii cf. rete Mhe Cok G preepr® ee fool or Doin 5 enter te B Gerla vem (Cal fe eetfamilial Hyper Choliatemio = Risk Covi tele scrvend GR) Ack be - 6yas fst ect ith, sBaiped om AfeorsFOl Value Nok proclictebl far aug . = lock 9 Puidene Buppet sofort Bib. porte = oftlD G— oS on > tik sy'o Badchsio < loys shail thy die t s OKer Cine “Chélenterel Lousr-ng, More's ane mare offic mdi palatable thon (in biades ta woedin - honto zg chao ~ hele uv > 10YKs: forte pan tio verse) clopeud = chokptecf lond - Grenchr: - n'y history wy) in. provctine adhnccllicd © delolipe Het fie so ¢ its leuoh tt smepactanrt /aa: a €Gra i fobig kane Clue eae Hr fasa kaisn a - , lcoton aynthesia tebolyte defe x Rate (auth) 18; ism lgim + hyperinsullnore