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116 Cards in this Set

  • Front
  • Back
- βchain, Glu to Val on position 6
- anemia, pain, ↓ circulation
- β chain, Glu to Lysine
- mild anemia
- sickle cell carrier + HbC
- undiagnosed until childbirth or surgery
- NADH cytochrome b5 reductaase
- ↓O2 carrying capacity of ferric Hb (
- headache, dyspnea, lightheadedness and chocolate cyanosis
α Thalassemia silent carrier
- 1 defective α chain
- no symptoms
- 3 defective α chains
- Accumulation of β4 tetramers in newborns, severe anemia
- 2 defective α chains
- Accumulation of γ4 tetramers in newborns
Hydrops Fetalis
- All 4 α-globin genes defective, fetal death
β thalassemia major
- both β chains are defective
- fatal
β thalassemia minor
- Only 1 β chain defective
- not fatal
- prolyl and lysyl hydroxylase
- vitamin C deficiency
- no hydroxylation of proline and lysine
- abnormal collagen,
- lysyl hydroxylase
- Stretchy skin, loose joints, aortic aneurysm, ruptured colon,
Osteogenesis Imperfecta
- Brittle bones in babies, blue sclera, multiple fractures, slowed healing
- Type 1: heterozygous, postnatal, can survive
- Type 2: homozygous, perinatal, death in utero
- α1- anti-trypsin
- Affect glomerular basement membrane, hearing loss, occular defects, hematuria
- type IV collagen
- Antibodies destroy basement membrane of pulmonary and glomerular capillaries
- Lysyl oxidase/Cu2+
- Deficient cross linking secondary to functional copper deficiency; depigmented
(steely) hair, arterial tortuosity and rupture, cerebral degeneration, anemia, osteoporosis.
Complex I NADH dehydrogenase
Complex III cytochrome reductase
Antimycin A
Complex IV cytochrome oxidase
complex V (ATP synthase)
Inhibits TCA --> Aconitase
Inhibits TCA --> Succinate dehydrogenase
Inhibits TCA --> α ketogluconate
Leber's hereditary optic neuropathy
- complex 1 (NADH dehydrogenase)
- degeneration of optic nerve
- mitochondrial dx
ragged red fibers
- heart block
- retinal pigmentation
Mitochondrial myopathy, encephalomyopathy, lactic acidosis, stroke-like episodes
Myoclonus epilepsy with ragged red fibers; ataxia, sensorineural deafness
Pyruvate dehydrogenase deficiency
- Pyruvate dehydrogenase
- Lactic acidosis, neurologic defects (Wernicke-Korsakoff)
Pyruvate DH complex deficiency
- Pyruvate DH complex
- Pyuvate to lactate, neonatal death, infancy death, episodic ataxia after meal
Arsenic poisoning
- G3PDH deficiency
- Lost NADH, pyruvate accumulates
Pyruvate kinase deficiency
- pyruvate kinase
- most common deficiency in glycolytic pathway
- hemolytic anemia and jaundice
Classical galactosemia
- GALT deficiency
- Cirrhosis, mental retardation, cataracts, galactosuria
Galactokinase deficiency
- galactokinase
- Cataracts, galactosemia, galactosuria
UDP galactose 4-epimerase deficiency
Benign: affects RBCs and WBCs Malignant: similar to GALT def
Hereditary fructose intolerance
- aldolase B deficiency
- toxic liver damage, renal disease, hypophophatemia, gout
Essential fructosuria
- fructokinase deficiency
- fructosuria
Hemolytic Anemia
- G6PD
- X linked, hemolytic anemia often induced by infections, oxidant drugs & fava beans;
- inadequate NADPH
production results in ↓ in antioxidant activity of glutathione in mature RBC’s
- Class I: chronic nonspherocytin anemia, most severe
- Class II: Mediterranean, normal stability, scarce activity in RBCs
- Class III: A-, oldest RBCs removed
Amyotrophic Lateral Sclerosis
- superoxide dismutase
- degenerated motor neurons in CNS
Glycogen storage Disease Type 0
- glycogen synthase
- hypoglycemia, death, hyperketonia
Von Gierke's (Type 1)
- Glucose 6-P
- hepatosplenomegaly
- severe fasting hypoglycemia
Pompe (Type II)
- α-1-4 glucosidase
(acid maltase)
- Infants: mental retardation, cardiomegaly, death by 2 yrs
- juvenile myopathy
- Adult: gradual skeletal myopathy
Cori’s (Type III)
- α-1-6 glucosidase
- Mild hypoglycemia, hepatomegaly
Andersen’s (Type IV)
- Glucosyl-4-6-transferase
- Hepatosplenomegaly, liver failure, death by 2 yrs
McArdle’s (Type V)
- Muscle glycogen phosphorylase
- Muscle cramping, fatigue, no increase in lactic acid after exercise
Hers’ (Type VI)
- Liver glycogen phosphorylase
- Mild hypoglycemia
- α-L-iduronidase
- Corneal clouding, MR, coarse facial features, early death
- Iduronate sulfatase
- X-linked, physical deformity, MR
San Filippo's A
- Heparin sulfate
San Filippo's B
- N-acetylglucosamidase
San Filippo's C
- N-acetyltransferase
San Filippo's D
- N-acetylglucosamine
- α-L-iduronidase
- like Hurler's, but normal life span
- β-glucronidase
- Hepatosplenomegaly, physical deformity
I-cell disease
- Lysosomal hydrolytic enzymes
- Deficiency in ability to phosphorylate mannose residues of potential lysosomal enzymes
- results in incorrect targeting of glycoproteins
- death by 8 yrs
- elevated N-linked glycoproteins in urine
Congenital α-β-lipoproteinemia
- Apo B-48
- Accumulation of chylomicrons in enterocytes
Type 1 hyperlipidemia (familial hyperchylomicronemia)
- Apo C-II, Capillary lipoprotein lipase
- Accumulation of chylomicrons in plasma; high plasma TAGs and eruptive xanthomas (TAG deposits in skin)
Type II hyperlipidemia
- Genetic defect in synthesis, processing or functioning of LDL receptor
- elevated LDL levels
Familial hypercholesterolemia
Type III hyperlipidemia (familial dysbetalipoproteinemia)
- Accumulation of chylomicron remnants in plasma
Type IV hyperlipidemia
↑ VLDL due to obesity, alcohol, diabeties
Type V hyperlipidemia
↑chylomicrons, TAGs, VLDL, pancreatitis
Wolman Disease
Cannot hydrolyze lysosomal cholesteryl esters
Familial LCAT deficiency
Complete absence of LCAT, low HDL
Fish Eye Disease
- partial absence of LCAT
Zellweger syndrome
- Defective peroxisomal biogenesis, accumulated VLCFAs in blood
X-linked Leukodystrophy
- Defective peroxisomal activation of VLCFAs, destroyed myelin
Carnitine deficiency
- inability to use long chain FA as fuel,
- causes: congenital, liver disease
CAT-1 deficiency
-Liver cannot synthesize glucose during fast, hypoglycemia, coma, death
CAT-2 deficiency
- Cardiomyopathy, muscle weakness following exercise
Medium chain Fattyacyl CoA dehydrogenase deficiency
- Decreased FA oxidation, severe hypoglycemia
- cause of 10% SIDS cases, Reyes syndrome; treat with
high carb diet
Paroxysomal Nocturnal Hemoglobinuria
- GPI synthase
- In hematopoietic cells
Refsum disease
- Fatty acid alpha-hydroxylase
- AR
- ↑ phytanic acid
- neurologic symptoms
Vitamin B12 deficiency
- Methylmalonic acidemia and aciduria, metabolic acidosis
Niemann-Pick Type A
- Sphingomyelinase
- Cherry red macula, hepatosplenomegaly, severe mental retardation, death in early childhood
Niemann-Pick Type B
- Chronic lung damage, death in early adulthood
Neimann Pick Type C
- Sphingomyelinase
- Cannot transport unesterified cholesterol out of lysosomes
- β-hexoaminidase A
- Cherry-red macula ↑ GM2, blindness, MR, early death
- β-glucosidase
- Sphingolipidosis, ↑glucocerebrosides, hepatosplenomegaly, MR, frequently fatal
Metachromatic leukodystrophy
- Arylsulfatase A
- MR, demyelination, fatal in 1st decade
- β-galactosidase
- ↑ galactocerebrosides, MR, almost total absence of myelin, fatal
GM1 gangliosidosis
- β-galactosidase
- GM1 accumulation, MR, skeletal deformities, death
Sandhoff’s disease
- β-hexosaminidase A & B
- ↑ globosides; same symptoms as Tay-Sachs with rapid progression.
- α-galactosidase
- ↑ globosides; X linked, kidney & heart failure, redish purple skin rash
- ceraminidase
- ↑ ceramide, painful and progressively deformed joints; granulomas, fatal early in life
3-β-hydroxysteroid dehydrogenase def.
- ↑ pregnenolone; no glucocorticoids, mineralocorticoids, androgens or estrogens; early death
17-α-hydroxylase deficiency
- sex hormones and cortisol not produced
- ↑ production of aldosterone leads to hypertension
- phenotypically female but unable to mature
21-α-hydroxylase deficiency
- most common form of CAH (chronic adrenal hyperplasia)
- ACTH levels ↑ leading to ↑ sex hormones and masculinization
11-β-hydroxylase deficiency
- ↓ cortisol and aldosterone
- masculinization as with 21-α-hydroxylase deficiency
Smith-Lemli-Opitz Syndrome
- 7-hydrocholesterol-7-reductase
- AR, double bond migration (Lanosterol to Cholesterol)
Classic PKU
- phenylalanine hydroxylase
- mental retardation, fair skin (dec. melanin synthesis from tyrosine), mousy odour in affected individual, vomiting stimulating congenital pyloric stenosis
must screen for phenylalanine after child has been exposed to phenylalanine in breast milk
- Treatment: restrict phenylalanine, add tyrosine
Malignant PKU
- dihydrobiopterin reductase/dihydrobiopterin synthase
- similar symptoms as classic PKU; melatonin and serotonin synthesis also compromised
- Treatment: restrict phenylalanine, add tyrosine, L-dopa and 5-hydroxytryptophan
Maternal PKU
- mother has either Classic or Malignant PKU
- developmental abnormalities; microcephaly, mental retardation, occurs because mother didn’t observe dietary restrictions
- homogentisate oxidase
- benign; homogentisate accumulates forming polymers that cause urine to darken upon standing; ochronosis; darkening of articular cartilage
Maple Syrup Urine Disease
- branched-chain ketoacid dehydrogenase
- levels of branched-chain α-amino acids and their α-keto analogues are elevated in plasma and urine
high mortality rate; neurologic problems
Propionyl CoA Carboxylase Deficiency
- Propionyl CoA Carboxylase
- Elevated propionate in blood; accumulation of odd chain FA in liver; developmental problems
- Cystathionase
- Accumulation of cystathionine and metabolites, no clinical symptoms
- Cystathionine synthetase
- Accumulation of homocysteine in urine, elevated methionine & metabolites in blood, MR, osteoporosis
- Histidase
- Elevated histadine in blood and urine, sometimes MR
- Tyrosinase
- Inability to convert tyrosine to melanin
- Eumarylacetoacetate hydrolase
- liver and kidney damage
Nonketogenic hyperglycinemia
- Glycine cleavage complex
- Severe mental deficiencies & low survival rate past infancy, inc. glycine in blood.
Type I Hyperammonemia
- Carbamoylphosphate synthetase I
- Within 24-48 hrs after birth infant becomes increasingly lethargic, needs stimulation to feed, vomiting,
hypothermia, & hyperventilation
- without appropriate intervention death occurs
- treat with arginine which
activates N-acetylglutamate synthetase
N-acetylglutamate synthetase deficiency
- N-acetylglutamate synthetase
- Severe/mild hyperammonemia associated wuth deep coma, acidosis, recurrent diarrhea, ataxia, hypoglycemia,
hyperornithinemia; treatment includes administration of carbamoyl glutamate which activates CPS I
Type 2 hyperammonemia
- Ornithine transcarbmoylase
- Most commonly occurring UCD, only X linked, increased ammonia and aa in serum, increased serum
orotic acid due to mitochondrial carbamoylphosphate entering cytosoland incorporating in pyrimidine
nucleotides leading to excess productin and excess catabolic products; treat with high carb, low protein diet,
and sodium phenylacetate/benzoate for ammonia detox
Classic Citrullinemia
- Argininosuccunate synthetase
- Episodic hyperammonemia, vomiting, lethargy, ataxia, seizures, coma; treat with arginine to increase
citruline excertion and sodium benzoate to detox ammonia
Argininosuccinate Aciduria
- Argininosuccinate lyase (argininosuccinase)
- Episodic symptoms similar to classic citrullinemia, elevated plasma and CSF argininosuccunate;
treat with argentine and sodium benzoate.
- Arginase
- Rare UCD progressive spastic quadriplegia and MR high ammonia & arginine in CSF & serum, high arginine,
lysine, and ornithine in urine; treat with low protein diet including essential AA but no arginine
Acute Intermittent porphyria
- Uroporphyrinogen synthase
- Autosomal dominant, inc. porphobilinogen & ALA in urine, attacks precipitated by drugs that induce
cytochrome P450 in liver
Congenital erythropoietic porphyria
- Uroporphyeinogen III synthase
- ↑ uroporphyrinogen I & uroporphyninI
Prophyria Cutanea Tarda
- Uroporphyrinogen decarboxylase
- ↑ uroporphyrinogen III which converts to uroporphyrinogen I & coproporphyrinogen I
Hereditary Coproporphyria
- Coproporphyrinogen oxidase
- ↑ coproporphyrinogen III
Varigate Porphyria
- Protoporphyrin oxidase
- Accumulation of protoporphyrinogen IX
Erythropoietic Protoporphyria
- Ferrochelatase
- Accumulation of protoporphyrin IX
Sideroblastic Anemia
- ALA synthase
- X-linked
Crigler-Najjar syndrome
- Bilirubin glucuronyl transferase
- In newborns: newborn jaundice, treat with blue light
Lead poisoning
- Ferrochelatase/ ALA dehydratase
- ↑ ALA and protoporphyrin XI, DEC. heme