BIO-Q Flashcards
Glucose-6–phosphate dehydrogenase deficiency features
Most common enzyme disorder
Recurrent hemolysis (dark urine)
Triggered by Fava beans, infections or drugs(sulfa drugs,anti-malarials)
Males (x-linked)
Africa
Heinz bodies, bite cells
Baby who just moved from breast feeding to solids, presents with hypoglycemia + lactic acidosis + ketosis, think of
Hereditary fructose intolerance
NB presents with hypoglycemia + lactic acidosis + ketosis right after being breast fed, think of
Galactosemia
Baby presents with hypoglycemia + lactic acidosis + ketosis during fasting period, think of
Glycogen storage disorder
Maple syrup urine disease is characterized by urine sweet smell. Results from ___
Alfa-ketoacid dehydrogenase complex def
Fatty acid disorder features
3 or more months old babe
Hypoketotic hypoglycemia*
Carnitine def and MCAD def are examples of
Fatty acid disorders
NB with lethargy, vomiting, seizures and severe isolated hyperammonemia (>1000, NV:<50), which enzyme is likely def?
Ornithine trancarbamylase
Orotic aciduria features
Megaloblastic anemia
Poor growth
Normal ammonia levels (dif from OTC def)
Suspect mitochondrial disease (pyruvate dehydrogenase def) when
Elevated alanine
Severe lactic acidosis
Hypoglycemia + urinary sugars soon after babe feeds, suspect
Galactosemia or HFI
Piruvate kinase def causes atp depletion which causes
Hemolysis (due to defective mb) and splenomegaly (due to red pulp hyperplasia)
Maple syrup disease physiopatholpgy
Alfa-keto acid dehydrogenase absence cannot breakdown leucine, isoleucine and valine -> accumulate-> neurotoxicity
Baby with microcephaly, seizures, hypopigmentation dysreg mood, appetite, sleep, think of
Tetrahydrobiopterin impaired synthesis (BH4)
Phenylalanine, tyrosine and tryptophan/serotonin affected
Features of an old cerebral infarct
Enlarged ventricle
Cystic cavity with loss of volume
Tissue destruction by lysosomal enzymes (liquefactive necrosis)
Which GI hormone produces HCO3
Secretin (s cells from duodenum)
Cholecystokinin
In which step of the TCA is GTP made?
From succinyl-CoA to Succinate rx
Hereditary angiodema features
Childhood/teens
Face/extremities swelling
Triggered by small trauma/stress
No itching/pain
-C1 inh def-> excess C1-> low C4
What things come from the neural crest?
Adrenal medulla
Melanocytes
Meninges, Schwann cells, skull
Branchial arches
Rare, life-threatening diseases req a high ( sensitivity/specificity )test
Sensitivity
Pt with recent increased activity, decreased sleep, racing thoughts, pressured speech, grandiose and paranoid delusions, thin of ___. Treat with___
Acute manic episode
D2 antagonist antipsychotics (haloperidol)
Pt with recent acute manic episode presents with fever, confusion and autonomic disfx, think of
Neuroleptic malignant sd due to D2 antagonist
Oculocutaneous albinism
Pyogenic infections
Progressive neurologic dysfunction
Think of
Chédiak-Higashi syndrome
Congenital heart disease
Dysmorphic facies
Hypocalcemia
Think of
DiGeorge sd
