Glycolysis/Gluconeogenesis Disorders
Fatty Acid Metabolism Disorders
Amino Acid Metabolism
Urea Cycle
Random
100
What disorder is characterized by a lack of pyruvate kinase?
Pyruvate Kinase Deficiency
100
What is the main difference between primary and secondary carnitine deficiency?
Secondary carnitine deficiency has an effective CPT1 and CPT2 but there are issues with cell signaling that affect the use of the carnitine shuttle
100
What branched chain keto-acid dehydrogenase deficiency causes a burnt urine odor and intellectual disability?
Maple Syrup Urine Disease
100
What is a common lab finding seen in urea cycle disorders?
Hyperammonemia
100
Deficiency of HGPRT (hypoxanthine-guanine phosphoribosyl transferase) and chronically high levels of uric acid, classically self-mutilating behavior points to?
Lesch-Nyhan syndrome
200
What phenomenon describes cancer cells commonly metabolizing glucose to lactate, regardless of oxygen availability?
Warburg Effect
200
Etiology of Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
What is accumulation of fatty acyl carnitines in the blood?
200
Propionic aciduria presents with poor feeding, vomiting, and low muscle tone, quickly followed by death from infection, cardiac failure, and stroke. It is inhereited how?
Autosomal Recessive
200
How is Ornithine transcarbamylate (OTC) deficiency inherited different than other urea cycle disorders?
X linked recessive
200
Impaired glycogen phosphorylase enzyme in skeletal muscle primarily characterized by adolescent/adult onset?
McArdle Disease (Type V)
300
What disease is characterized by an increased ratio of glucagon signaling to insulin signaling and constant activation of the glucagon-cAMP-PKA pathway in hepatocytes?
Type 1 Diabetes Mellitus
300
What causes diabetes ketoacidosis?
Poorly controlled diabetes + hypoinsulinemia + excess catecholamines (norepi, epi) ⇒ excess fat breakdown ⇒ Acetyl-CoA accumulation ⇒ ketone bodies that exceed buffering capability of blood, causing high anion gap
300
Methylmalonic aciduria occurs due to?
Deficiency in methylmalonyl-CoA mutase or low levels of vitamin B12 cofactor
300
High level of orotic acid and low/absent citrulline points to what disorder?
Ornithine transcarbamylate (OTC) deficiency
300
Which lysomsomal storage disease is associated with corneal clouding?
Hurler's Syndrome (MPS Type 1)
400
What common presentation of pyruvate kinase deficiency results in an increase in unconjugated bilirubin due to large-scale hemolysis and bilirubin gallstones?
Hemolytic Anemia
400
What other form of ketoacidosis has similar presentation as DKA?
Alcoholic ketoacidosis
400
Decsribe the differences between classic phenylketonuria (PKU), Atypical PKU and Maternal PKU.
Deficiency in phenylalanine hydroxylase - cannot convert phenylalanine into tyrosine
defective dihydropteridine reductase impairs tetrahydrobiopterin synthesis
pregnant women
400
What is the key lab finding in alcohol liver disease?
AST> ALT
400
What carbohydrate metabolism disorder leads to decrease intracellular phosphate and vision loss in infancy?
Classical Galactosemia
500
What is an autosomal recessive disorder that patients present with hypoglycemia after fasting, metabolic acidosis, hyperventilation, apnea, ketosis and mutations in FBP1 gene?
Fructose-1,6-bisphosphatase deficiency
500
Alcoholic Lactic Acidosis is characterized by?
Ethanol-induced hypoglycemia and lactic acidosis
500
Elevated homocysteine levels and macrocytic megaloblastic anemia are present in Vitamin B12 and Vitamin B9 deficiency. What clinical presentation differientitates them?
Wlevated methylmalonic acid and peripheral neuropathy in B12 deficiency
500
What is the mechanism of hepatic encephalopathy?
alpha-ketoglutarate and (subsequently) glutamate levels become depleted due free ammonia (hyperammonemia) which causes brain damage
500
Which lysosomal storage disease common in Ashkenazi Jewish population leads to decrease in motor function, early death in infants and hepatosplenomegaly?
Neimann-Pick Disease