Board Review 11/27/2012. Inborn Errors of Metabolism. Test Question. What topic should we do for December Board Review? Poisonings and Environmental Exposures Substance Abuse. Approach to Metabolic Disorders…. Inborn Errors of Metabolism. Acute Presentation Metabolic crisis
What topic should we do for December Board Review?
An infant who presented with vomiting is now lethargic and progressing to a comatose state. Mom says she just found out the newborn screen was abnormal. Which two tests are most important EMERGENTLY so that interventions may be started?
A 3 day old infant was initially vigorous at birth but now has poor feeding, tachypnea, and lethargy. Septic work-up is negative. Serum electrolytes, glucose, and lactate are normal. An ABG shows: pH 7.53, pCO2 20, HCO3 25. Serum ammonia level is 465mcmol/L (elevated). Urine ketones are negative. What is the most likely diagnosis?
A 2 day old newborn presents with feeding difficulties and lethargy. Septic work-up is negative and urine organic acid values suggest an organic acidemia. The following are lab values which could be seen on initial presentation EXCEPT:
Organic Acids Defects
Odd chain fatty acids
Even chain fatty acids
Breast milk, cow’s milk
A 6 day old female who is breast fed is brought to the emergency room due to poor feeding, vomiting, hepatomegaly, and jaundice. You suspect galactosemia. Which of the following would support this diagnosis?
A 9 year old male is brought to the emergency room due to vomiting and lethargy shortly after a birthday party. PMHx is significant for FTT in late infancy which resolved without determination of a diagnosis. He had had several bouts of vomiting in the past, usually after consuming candy or soft drinks. Labs reveal elevated AST and ALT. What is the most likely diagnosis?
A. Hereditary fructose intolerance
B. Glycogen storage disease Type II
C. Fatty acid oxidation defect
D. Fabry disease
E. Zellweger syndrome
VLCAD LCAD MCAD SCAD
A 2 month old female becomes comatose after an upper respiratory illness. Which of the following lab findings would most suggest a disorder of fatty acid oxidation?
You are seeing a new 1 year old patient for developmental delay. Based on a positive family history, you are suspecting an inborn error of metabolism as the cause. What are you MOST likely to see on exam??
You are convinced that a patient is suffering from a chronic inborn error of metabolism. Other than Genetics, who would you MOST likely consult first during your initial work-up.
A 3 month old female is found to have hepatomegaly on routine exam. She is asymptomatic. Lab testing shows hypoglycemia, lactic acidosis, hyperuricemia, hyperlipidemia and elevated AST and ALT. Which type of disorder do you suspect?
Glucose – 1- P
Stimulates fatty acid synthesis and inhibits fatty acid breakdown
Pentose phosphate shunt
Glucose – 6- P
GSD types 1a and 1b