Biochem Flashcards
Chronic Granulomatous dz = deficiency in
Nicotinamide Adnein Dinucleotide phosphate oxidase
Child with Cardiomyopathy, glossitis, hypotonia, elevated creatine kinase. Low Leukocyte and maltase levels. Exercise intolerance
Pompe dz
Absent alpha-1,4-glucosidase (cant hydrolyze glycogen, AKA acid maltase)
Glycogen accumulates
Child with bad eye sight, tall, awkward gait, scoliosis
Homocystinuria
Defect in cystathionine synthase (homocystein -> cystationine)
Marfan features + sublaxation of the lensCan have atherosclerosis
ar
I-cell dz
Failure to phosphorylate mannose-6-P residues = exocytosis of lysosomal enzymes
Deficient in N-acetylglucosamine
Child with FTT, vomitting associated with milk, jaundice, bilateral clouding of eye lenses, hepatomegaly, developmental delay
Galactosemia, ar
Galactose-1-P uridyltranserferase deficiency
Avoid galactose and milk (lactose)
Galactokinase deficiency causes less severe symptoms
Dz such as syphilis target a specific intracellular antigen in their host
Cardiolipin. Phospholipid in the inner mitochondrial membrane.
Virilized female neonate with hypotension and hyperkalemia
21-hydroxylase deficiency
Virilized female neonate with hypertension and hypervolemia
11beta-hydroxylase deficiency
Female teenager that does not undergo normal sexual maturation during puberty. Excessive aldosterone causes hypertension and hypokalemia
17alpha-hydroxylase deficiency
Unable to convert progesterone and pregnenolone to cortisol, test, and estrogen
Severe fasting hypoglycemia, high blood lactate, hepatomegaly. Usually presents around 6 mo when feedings are spread out
Von Gierke dz
Glucose 6 P deficiency
Tx - frequent oral glucose. Avoid fructose and galactose
childhood with hepatomegaly, hypoglycemia, weakness, hypotonia. Milder form of von Gierke with short outer chains
Cori dz Debranching enzyme (alpha-1,6-glucosidase) deficiency Gluconeogenesis is intact
Exercise intolerance, painful cramps, myoglobinuria
McArdle dz
Defecient in muscle glycogen phosphorylase (myophosphorylase)
Tx - Vit B6
Peripheral neuropathy of hands/feet (burning parathesia, temperature intolerance), angiokeratomas (red papules on abdomen, scrotum, decreased sweating), cardio/renal dz
Fabry dz
alpha galactosidase A deficiency
Ceramid trihexoside accumulation
X linked
Hepatosplenomegaly, osteoporosis, bone crisis, lipid-laden macrophages
Gaucher dz
Glucocerebrosidase defeciency (beta-glucosidase)
Glucocerebroside accumulates
Tx - recombinant glucocerebrosidase
Progressive neurodegeneration, hepatosplenomegaly, foam cells, cherry-red spot on macula
Niemann-Pick dz
Sphingomyelinase deficiency
Sphingomyelin accumulation
Neurodegeneration, developmental delay, cherry-red spot on macula
Tay-Sachs dz
Hexosaminidase A deficiency
GM2 ganglioside accumulates
Peripheral neuropathy, developmental delay, optic atrophy, globoid cells
Krabbe dz
Galactocerebrosidase deficiency
Galactocerebroside and psychosince accumulate
Central and peripheral demyelination, ataxia, and dementia
Metachromatic leukodystrophy
Arylsulfatase A deficiency
Cerebroside sulfate accumulates
Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly
Hurler syndrome
alpha-L-iduronidase deficiency
Heparan sulfate, dermatan sulfate accumulates
Mild hurler syndrome plus aggressive behavior. NO corneal clouding
Hunter syndrome
Iduronate sulfatase deficiency
Heparan sulfate, dermatan sulfate accumulate
XR
Urine turns dark over time, black cartilage. Brownish gray deposits in sclerae, ears. Arthralgia, nephrolithiasis in severe cases
Alkaptonuria
Deficiency in homogentisic acid oxidase
Defect in tyrosine degredation
Endocrine hormones using cAMP pathway
FLAT ChAMP
FSH, LH, ACTH, TSH CRH, hCG, ADH (V2), MSH, PHT calcintonin, GHRH, glucagon
Endocrine hormones using cGMP pathway
BAD GramPa (vasodilators) BNP, ANP, EDRF (NO)
Endocrine hormones using IP3 pathway
GOAT HAG
GnRH, Oxytocin, ADH (V1), TRH, Histamine (H1), Angiotensin II, Gastrin