Diagnostic smell
NBS page
Diagnose the IEM
Name the metabolite
Buzz words
100
What is maple syrup urine disease?
100
Name the main disease that is screened by C14:1 on NBS?
What is VLCAD?
100
A 38-hour-old boy has a C14:1 acylcarnitine level of 1.61 (cutoff <0.66) and a C14:2 of 0.16 (cutoff <0.09) and at discharge from the nursery 1 hour ago he was noted to have lost 15 ounces from his birth weight.
C14:1 is the analyte for which disorder?
Next steps?
What is VLCAD?
Evaluate, repeat ACP, treat (glucose + freq feeds)/
100
C3
What is propionylcarnitine?
100
Macrocephaly, developmental delay and subdural hematomas.
What is Glutaric aciduria type 1?
200
What is phenylketonuria?
200
Name main disease that is screen by C8 on NBS.
What is MCAD?
200
An 8 yo female recently moved to the United States from the Republic of Congo. Newborn screening was never performed. She is presenting with acute liver failure (AST and ALTs >10,000, INR 9) and hyperammonemia 280mcmol/L. There is a distant history of treated malaria as an infant. Plasma amino acids showed citrulline borderline low. Which is the most likely diagnosis?
What is ornithine transcarbamylase deficiency?
Interestingly, urine organic acids showed no orotic acid.
200
C8
What is octanoylcarnitine?
200
You are seeing a 4-day-old male who you have just been called because he has a concerning abnormal Newborn Screening (NBS) result. His mother had severe pre-eclampsia, hemolysis, elevated liver enzymes and low platelet counts (HELLP syndrome) during her pregnancy with him. Which FAOD is associated with HELLP?
What is LCHAD?
Analyte C16:OH
300
Sweaty feet.
What is isovaleric aciduria?
300
Name three differentials of an elevated C3 on NBS.
What is MMA, PA or disorders of B12 deficiency (primary or maternal)?
300
A 9-year-old boy is referred by a neurologist for evaluation of a 6-month history of decreasing intellectual performance. An MRI shows prominent white matter changes. Serum biochemistries reveal evidence of mild adrenal dysfunction. Which of the following biochemical pathway components is most likely to be encoded by the gene for this disorder? What is the name of the disorder?
What is peroxisomal membrane protein?
What is X-linked adrenoleukodystrophy?
300
C5
What is isovalerylcarnitine?
300
Name a disease: Hypoketotic hypoglycemia.
What is a fatty acid oxidation disorder?
400
Cabbage like.
What is Tyrosinemia type 1?
400
Name 2 differential diagnoses of an elevated C5-DC in NBS.
What is glutaric aciduria type 1 or renal disease?
400
An 18-month-old boy displays severe proximal shortening of limbs, facial dysmorphism, cataracts, calcific stippling of epiphyses, developmental delay. After referral to a medical geneticist, diagnostic testing reveals decreased erythrocyte plasmalogen levels while plasma very-long-chain fatty acids were normal. Which of the following peroxisomal disorders best explains this constellation of clinical and laboratory findings?
What is Rhizomelic chondrodysplasia punctata?
RCP is associated with proximal shortening of the limbs, cataracts, calcific stippling of epiphyses and decreased erythrocyte plasmologen levels due to a PEX7 gene mutation. ZSD would have elevated plasma long-chain fatty acids.
400
C5-DC
What is glutarylcarnitine?
400
Neonatal hypotonia, seizures, apnea and hiccups. Burst suppression on EEG.
What is nonketotic hyperglycinemia?
500
Cat urine.
What is multiple carboxylase deficiency?
OR
What is 3-methylcronotyl-CoA carboxylase deficiency?
500
Child has elevated C5-OH on NBS, name a differential?
What is Beta-ketothiolase deficiency; Biotinidase deficiency; Holocarboxylase deficiency; HMG-CoA lyase deficiency; 2M3HBA; 3MGA;3MCC?
500
You evaluate a 6-day-old term girl in the emergency room with an unremarkable prenatal and family history. She was discharged home at 2 days of age on regular infant formula. For 24 hours she has been eating poorly (<1 ounce per feed) and seems “sleepy.” She has vomited once. Her CBC is normal, her electrolytes show a metabolic acidosis and the ammonia level is 500 mg/dl. Which metabolic laboratory results are you the most likely to find?
What are elevated plasma glycine with 3-OH-propionate, methylcitrate present on urine organics acids.
500
C0
What is free carnitine?
500
Antiquitin deficiency. Elevated AASA (alpha aminoadipic semialdehyde)
What is pyridoxine dependent epilepsy?