Block 2 Dieases Flashcards by Madeleine Hebert

Arsenite poisoning

binds lipoic acid
interferes with E2 of pyruvate dehyrogenase and to alpha-ketoglutarate DH, inhibits gluconeogenesis
build-up of pyruvate and then lactate

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von Gierke disease enzyme

glucose 6-phosphatase

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von Gierke features

liver and kidney glycogen accumulation, doll-like facial features, thin extremities, short stature, protuberant abdomen, PCOS in untreated females
lactic acidosis, hyperlipidemia, hypoglycemia

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Pompe disease enzyme

lysosomal hydrolase (debranching enzyme, 4:4 transferase and 1:6 glucosidase)

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Pompe disease features

lysosomal glycogen accumulation
juvenile-onset hypoglycemia, muscle hypotonia, heart failure, cardiomegaly, floppy baby syndrome
adult-onset: muscular dystrophy

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McArdle disease enzyme

muscle glycogen phosphorylase

NORMAL GLYCOGEN STRUCTURE

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McArdle disease features

poor exercise tolerance, high m. glycogen, blood lactate low after exercise, burgundy urine

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Hers disease enzyme

liver glycogen phosphorylase

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Hers disease features

hepatomegaly, liver glycogen accumulation, mild hypoglycemia, good prognosis

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Forbe/Cori disease enzyme

liver and muscle debranching enzyme
=limit dextrinosis
ABNORMAL GLYCOGEN STRUCTURE

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GSD (Glycogen Storage Disease) Type 0 enzyme

glycogen synthase

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GSD (Glycogen Storage Disease) Type 0 features

hyperketonemia, hypoglycemia, early death

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G6PD deficiency features

neonatal jaundice, acute hemolytic anemia, Heinz bodies (cross-linked, denatured proteins)

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G6PD deficiency

X-linked

inability to carry out PPP prevents formation of NADPH, cannot regenerate GSH (glutathione, req. NADPH) to cope with ROS

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Fructosuria enzyme

fructokinase

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Fructosuria features

autosomal recessive

fructose accumulation in urine, benign

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HFI, Hereditary Fructose Intolerance enzyme

aldolase B

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HFI features

trapping of F1P, no phosphate produced
severe hypoglycemia, vomiting, jaundice, hepatomegaly, hemorrhage, hyperuricemia, lactic acidemia, hemorrhage
cannot metabolize fructose, sucrose, or sorbitol

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Type I galactosemia enzyme

GALT, galactose 1-P uridyltransferase

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Type I galactosemia features

classic type
response to lactose/galactose: vomiting, diarrhea, jaundice, liver damage, severe mental retardation, cataracts, ovarian failure

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Type II galactosemia enzyme

GALK, galactokinase

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Type II galactosemia features

lactose/galactose response: cataracts, galactosuria, no long-term complications

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Type III galactosemia enzyme

GALE, UDP-hexose 4-epimerase

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Type III galactosemia features

relatively benign, usually only affects red and white blood cells unless rare form ~Type I

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Hunter syndrome GAGs build-up

dermatan sulfate and heparan sulfate

Hunter syndrome features

X-LINKED ! | NO corneal clouding, physical deformity, mental retardation

Hurler syndrome GAGs build-up

dermatan sulfate and heparan sulfate

Hurler syndrome features

autosomal recessive | CORNEAL CLOUDING, dwarfing, hearing loss, upper airway obstruction, coronary artery deposition-->death

San Filippo syndrome GAGs build-up

heparan sulfate

San Filippo syndrome features

autosomal recessive 4 types severe nervous system disorders, mental retardation

Sly syndrome GAGs build-up

dermatan sulfate and heparan sulfate

Sly syndrome features

autosomal recessive | CORNEAL CLOUDING, hepatosplenomegaly, skeletal deformity, short stature, mental deficiency

I-cell disease pathology

INCLUSION bodies of improperly processed N-linked glycoproteins meant as lysosomal enzymes-->exported out of cell inability to phosphorylate mannose and address glycoprotein to lysosome deficiency of hydrolytic enzymes in lysosomes

I-cell disease features

skeletal abnormalities, joint restriction, coarse facial features, severe psychomotor problems, death by age 10

Steatorrhea cause

lipid malabsorption

Cystic fibrosis defect

CFTR gene mutation | folding defect and degradation of protein ERAD leads to non0functional chloride channels on all epithelial cells

Cystic fibrosis features

pancreatic insufficiency, thickened pancreatic secretions prevent lipases from reaching intestine, rely on gastric lipase

Orlistat function

anti-obesity drug | competitive inhibitor for pancreatic and gastric lipases

Chylomicronemia

build-up of chylomicrons, result from lipid malabsorption

Type I hyperlipoproteinemia (familia lipoprotein lipase deficiency) deficiency

APOC2 deficiency leads to non-functional lipoprotein lipase (cofactor)

Type III hyperlipoproteinemia (familial dysbetalipoproteinemia) deficiency

APOE deficiency, inability to synthesize chylomicrons (deficient core protein)

Hyperlipoproteinemia features

pancreatitis, neuralgias, xanthomas, chylomicronemia

Ezetimibe function

lowers cholesterol | binds to NPC1L, carrier protein for cholesterol transport

Mucopolysaccharidoses

Hunter, Hurler, San Filippo, Sly syndromes

Carnitine deficiency features

muscle weakness, cardiomyopathy, acute encephalopathy, hypoglycemia, chronic infections

Congenital carnitine palmitoyl transferase (CPT-I or CPT-II) deficiencies pathology

prevent carnitine shuttle in fatty acid degradation

Peroxisome Biogenesis Disorders (PBDs) pathology

interfere with peroxisomal beta-oxidation for very long fatty acid chains

Zellweger syndrome pathology

Peroxisome Biogenesis Disorder | autosomal recessive

adrenoleukodystrophy

Peroxisome Biogenesis Disorder | X-linked (Lorenzo's Oil)

Zellweger syndrome features

impaired neuronal migration, brain development

Adrenoleukodystrophy features

mental impairment, motor problems

Refsum's disease deficiency

alpha-hydroxylase | prevents alpha-oxidation of fatty acids

Refsum's disease features

retinitis pigmentosum, deafness, cerebellar ataxia

Hyaline membrane disease pathology

low production of DPPC, dipalmitoyl phosphatidyl choline, lung surfactant from PC synthesis (salvage pathway or de novo)

Hyaline membrane disease features

respiratory distress syndrome | common in premature infants

Paroxysmal nocturnal hemoglobinuria pathology

deficiency of GPI, glycosyl phosphatidyl inositol, anchoring protein from PI phospholipid synthesis

Paroxysmal nocturnal hemoglobinuria features

hemolytic disease, loss of protein anchoring--> RBC hemolysis

Niemann-Pick disease enzyme

sphingomyelinase, loss-of-function mutation

Niemann-Pick disease features

severe mental retardation, hepatosplenomgaly, death in early adulthood, higher incidence in Ashkenazi Jews

Niemann-Pick disease lipid accumulation

sphingomyelin

Niemann-Pick primary organs

brain, liver, spleen

Tay-Sachs disease enzyme

beta-hexosaminidase A

Tay-Sachs lipid accumulation

ganglioside GM2

Tay-Sachs primary organs

brain

Sphingolipidoses

Tay-Sachs, Gaucher, Fabry (X-linked), Niemann-Pick, Farber

Gaucher disease enzyme

glucocerebrosidase

Gaucher disease lipid accumulation

glucocerebroside

Gaucher disease primary organs

brain, liver, spleen

Fabry disease enzyme

alpha-galactosidase

Fabry disease lipid accumulation

ceramide trihexoside

Fabry disease inheritance

X-linked

Farber disease enzyme

ceramidase

Farber disease lipid accumulation

ceramide

Farber disease primary organs

joints, liver, spleen

Fabry disease primary organs

kidney

MCAD (medium chain-length acyl CoA DH) deficiency pathology

decreased fatty acid beta-oxidation leads to lipid build-up

MCAD features

associated with SIDS and Reye syndrome severe hypoketotic hypoglycemia autosomal recessive loss-of-function point mutation

Pyruvate dehydrogenase complex deficiency features

cerebral lactic acidosis, encephalopathy

Thiamine deficiency (TPP, vit B1) features

CNS problems, no ATP produced

Forbe/Cori disease features

fasting hypoglycemia, hepatomegaly in infancy, muscle weakness