Maple syrup urine disease Study guides, Class notes & Summaries

ATI Nutrition Practice Test A & B 1. A nurse is caring for a client who expresses a desire to lose weight. Which of the following actions should the nurse take first? a. Recommend checking weight once weekly. b. Obtain a 24-hr dietary recall. c. Assist with creating an exercise plan. d. Initiate a plan for diet modification. 2. A nurse is teaching about nutritional requirements for a client who is starting a vegetarian diet. Which of the following information should the nurse include in...

IBCLC Exam Flashcards UPDATED 2023 Micrognathia Condition where jaw is undersized; common but can interfere with feeding and breathing PKU (phenylketonuria) Body does not produce enzyme to break-down amino acid phenylalanine and this builds-ups in blood; need low phe formula and CAN breastfeed Maple Syrup Disease Body is unable to break-down certain proteins/amino acids (leucine); sweet smelling urine. Need low protein diet/special formula i.e. Ketonex-1. BF CONTRAINDICATED Gal...

What are the primary organic acid abnormalities that occur in carnitine deficiency? correct answers -adipate -suberate -ethylmalonate What patterns of abnormalities discriminate mitochondrial inefficiency from ammonia challenge as a cause of citric acid elevation? correct answers -high citrate, aconitate, isocitrate + orotate indicates ammonia challenges -wihtout orotate= mitochondrial inefficiency What patterns suggest a deficiency of CoQ10? correct answers -High succinate, fumarate, m...

Patho Evolve HESI Prep correctly answered to pass(graded A+)2023ptosis - correct answer eyelid drooping nystagmus - correct answer rapid, rhythmic movement of both eyes astigmatism - correct answer distortion of lens of eye --> decreased visual acuity exopthalmus - correct answer -protrusion of eyeball -seen in hyperthyroidism inheritence of maple syrup urine disease - correct answer -autosomal recessive inheritance disorder -both genes of pair must be abnormal for disorder to b...

Biochemistry SHELF Revised Questions and Correct Answers Graded A++ branched amino acids Val, leu, ile essential amino acids PVT TIM HALL -OH amino acids Tyr, Ser, Thr Maple syrup urine disease: deficiency of Alpha-keto acid dehydrogenase Lesch-Nyhan syndrome Deficiency in hypoxanthine-guanine phosphoribosyl transferase. Defect in purine salvage reactions. Orange sand urine, self-mutilation and mental retardation. PKU Phe hydroxylase deficiency. Need cofactor BH4; mental retardatio...

MTM Exam 4 Diseases Latest Update with Verified Solutions DMD -loss of function, recessive, haplosufficiency -symptoms present < 5 yoa -progressive symmetrical muscular weakness -wheelchair dependent by 12-13 yoa -life expectancy = teens - 30s -do not reproduce -calf pseudohypertrophy -elevated serum creatine kinase -unable to perform neck flexion -complete absence of dystrophin -mutations: deletions, frameshift, nonsense -exon length is NOT a multiple of 3 -frameshifts -> null mutations ...

Which of the following aminoacidopathies is NOT caused by an enzyme deficiency? Choose one answer. a. phenylketonuria b. alkaptonuria c. maple syrup disease d. cystinuria - ANSWERd. cystinuria What method is most commonly used to measure total protein? Choose one answer. a. dye binding b. Kjeldahl c. Biuret d. refractometry - ANSWERc. Biuret Which of the following is the preferred reagent for measuring albumin by the dye binding method because there is less interfer...

NUR 475 Maternity Ch 1, 3, 6 Latest updated 2021/2022 Chapter 1-21st Century Maternity Nursing Maternity Nursing Maternity Nursing- encompasses pre-conception, pregnancy, childbirth and the first 6 weeks after birth. ◦ Care givers ◦ Nurses ◦ Nurse practitioners ◦ Nurse midwives ◦ Locations ◦ Offices ◦ Clinics ◦ Home ◦ hospitals ◦ HEALTH DISPARITIES Health disparities refer to differences in the health status of different groups of people. Some groups of people have higher rat...

Which of the four elements in proteins differentiated this class of substances from carbohydrates and lipids? - Answer- Nitrogen Which of the proteins is soluble in water? - Answer- Albumin How are amino acids joined together to form a chainlike structure? - Answer- Peptide bonding Proteins may become denatured when subjected to mechanical agitation, heat, or chemical treatment. What does denaturation of proteins refer to? - Answer- Alteration of tertiary structure Which aminoacidopa...

Micrognathia Condition where jaw is undersized; common but can interfere with feeding and breathing PKU (phenylketonuria) Body does not produce enzyme to break-down amino acid phenylalanine and this builds-ups in blood; need low phe formula and CAN breastfeed Maple Syrup Disease Body is unable to break-down certain proteins/amino acids (leucine); sweet smelling urine. Need low protein diet/special formula i.e. Ketonex-1. BF CONTRAINDICATED Galactosemia Rare genetic (metabolic) disorde...