Important Diseases Flashcards
Chronic hemolytic anemia, most common enzyme defect in glycolysis
PYRUVATE KINASE DEFICIENCY
Final step in Glycolysis
PEP –> Pyruvate + ATP
Congenital lactic acidosis, X-linked dominant condition
PYRUVATE DEHYDROGENASE DEFICIENCY
Pyruvate —> Acetyl CoA
Flatulence, cramps, and diarrhea after ingestion of dairy products.
LACTOSE INTOLERANCE
Lactase deficiency
Severe fasting hypoglycemia, hepatomegaly, elevated glycogen in liver
VON GIERKE DISEASE
Glucose 6-Phosphatase Deficiency
Glucose cannot escape liver
Cardiomegaly and heart failure from impaired glycogen metabolism
POMPE DISEASE
Lysosomal Acid Maltase Deficiency
Hepatomegaly, milder form of Von Gierke disease
CORI DISEASE
Debranching enzyme deficiency
Myoglobinuria with strenuous exercise
McARDLE SYNDROME
Skeletal Muscle Glycogen Phosphorylase Deficiency
Decreased NADPH in RBCs leads to hemolytic anemia due to poor RBC defense against oxidizing agents
GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY
Recurrent pyogenic infections due to impairment of respiratory burst of neutrophils and monocytes
CHRONIC GRANULOMATOUS DISEASE
NADPH Oxidase Deficiency
Cataracts within a few days of birth, vomiting and diarrhea after milk ingestion, lethargy, hypotonia, mental retardation
CLASSIC GALACTOSEMIA
Galactose 1P Uridyltransferase Deficiency (GALT)
Galactosemia, galactosuria, cataracts in early childhood
GALACTOKINASE DEFICIENCY (GALK)
Essential fructosuria
FRUCTOKINASE DEFICIENCY
Fructosuria, severe hypoglycemia, lactic acidosis, liver damage, jaundice
HEREDITARY FRUCTOSE INTOLERANCE
Aldolase B Deficiency
Avoid sucrose and fructose containing food
Sucrose = Glucose + Fructose
Progressive cognitive and behavioral impairment due to accumulation of amyloid plaques in the hippocampus and cerebral cortex
ALZHEIMER DISEASE
Fatal neurodenegerative diseases characterized by spongiform changes, astrocytic gliomas, and neuronal loss
PRION DISEASES
Glutamate is replaced by valine at position 6 of the β-globin chain, causing hemoglobin that polymerizes inside the RBC
Synthesis of α-chains is decreased or absent.
Sysmptomatic at birth.
ALPHA THALASSEMIA
Synthesis of β-chains is decreased or absent.
Symptomatic 5-6months old.
BETA THALASSEMIA
Spectrin deficiency causes spherical RBCs that are rapidly culled by the spleen
HEREDITARY SPHEROCYTOSIS
Blue sclerae, multiple fractures, conductive hearing loss
OSTEOGENESIS IMPERFECTA
Type I Collagen disorder
Berry aneurysms, hyperextensible skin, hypermobile joints, tendency to bleed
EHLERS-DANLOS SYNDROME
Type III Collagen disorder
Loose teeth, sore spongy gums, poor wound healing, petechiae on skin and mucous membranes
SCURVY
Vitamin C deficiency
The skin breaks and blisters as a result of minor trauma
EPIDERMOLYSIS BULLOSA DYSTROPHICA
Type VII Collagen disorder
Hereditary nephritis with sensorineural hearing loss
ALPORT SYNDROME
Type IV collagen deficiency
Aortic dilatation, dolichostenomelia, arachnodactyly, upward lens displacement
MARFAN SYNDROME
Fibrillin-1 deficiency
Panacinar emphysema and liver failure
α-1 ANTITRYPSIN DEFICIENCY
Hepatolenticular degeneration from accumulation of copper in tissues, with low levels of ceruloplasmin
WILSON DISEASE
Impaired transfer of copper from intestinal mucosal cells to the blood leading to growth retardation, mental deficiency, and kinky hair
MENKES DISEASE
Musty body odor, mental retardation, growth retardation, fair skin, eczema
PHENYLKETONURIA
Phenylalanine Hydroxylase Deficiency
Cofactor: Tetrahydrobiopterin
Mgt: dec Phe, inc. Tyr
Decreased pigmentation that increases risk for skin cancer
ALBINISM
Tyrosinase deficiency
Unable to produce Melanin
Atherosclerosis, lens subluxation (downward), stroke, myocardial infarction, osteoporosis, tall stature
HOMOCYSTINURIA
Staghorn calculi due to inherited defect of renal tubular amino acid transporter
CYSTINURIA
Mental retardation from blocked degradation of branched-chain amino acids
MAPLE SYRUP URINE DISEASE
alpha-ketoacid dehyfrogenase deficiency (5 cofactors)
accumulation of branched amino acids V I L
Metabolic acidosis, reduced blood flow leading to seizure, encephalopathy, and stroke in very young patients
METHYLMALONIC ACIDEMIA / ACIDURIA
Methylmalonyl CoA Mutase Deficiency
Abdominal pain and neuro-psychiatric symptoms from accumulation of ALA and PBG
ACUTE INTERMITTENT PORPHYRIA
Uroporphyrinogen I Synthase Deficiency
Most common porphyria, presents with photosensitivity and urine that is red to brown in natural light due to uroporphyrins
PORPYHYRIA CUTANEA TARDA
Uroporphyrinogen Decarboxylase Deficiency
Severe congenital jaundice with brain damage
TYPE I CRIGLER-NAJJAR SYNDROME
Complete absence of hepatic UDP-glucuronosyl transferase
Conjugated hyperbilirubinemia discovered by a Filipino
ROTOR SYNDROME
Protein deprivation that is relatively greater than the reduction in total calories
KWASHIORKOR
Caloric deprivation is relatively greater than the reduction in protein
MARASMUS
Condition marked by increased protein catabolism
CACHEXIA
Lipid malabsorption resulting in increased lipids in feces and deficiency of essential fatty acids and fat-soluble vitamins
STEATORRHEA
Alcohol leads to fat accumulation in the liver. d/t inc. in NADH
FATTY LIVER
Cerebrohepatorenal syndrome due to absence of peroxisomes
ZELLWEGER SYNDROME
Defect in peroxisomal activation of VLCFA leads to accumulation of VLCFA in the blood and tissues
ADRENOLEUKODYSTROPHY
Most common inborn error of beta oxidation, sudden infant death syndrome
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
Accumulation of phytanic acid
REFSUM DISEASE
Hypoglycin from unripe fruit of the akee tree inactivates medium- and short-chain acyl CoA dehydrogenase
JAMAICAN VOMITING SICKNESS
Excess TAGs and chylomicrons in blood leads to deposition in liver, skin, pancreas
FAMILIAL LIPOPROTEIN LIPASE DEFICIENCY (Type I)
Elevated LDL cholesterol with increased risk for atherosclerosis and coronary artery disease
FAMILIAL HYPERCHOLESTEROLEMIA (Type IIa)
Dyslipoproteinemia that is beneficial to health and longevity
FAMILIAL HYPERALPHALIPOPROTEINEMIA
Accumulation of fat in intestinal enterocytes and hepatocytes, with deficiency in fat-soluble vitamins and essential fatty acids
ABETALIPOPROTEINEMIA
Failure to thrive, salt-wasting, hypoglycemia, ambiguous genitalia
CONGENITAL ADRENAL HYPERPLASIA
Low plasma cholesterol, elevated 7DHC, dysmorphic facial features, microcephaly, mental retardation, congenital heart disease, other malformations, often stillborn
SMITH-LEMLI-OPITZ SYNDROME
7-Dehydrocholesterol Reductase Deficiency
Mental retardation, cherry-red spot on macula, lysosomes with onion skin, (but no hepatosplenomegaly) from accumulation of GM2 ganglioside
TAY-SACHS DISEASE
Mental retardation, aseptic necrosis of femur, enlarged liver and spleen from accumulation of glucosyl-ceramide
GAUCHER DISEASE
Mental retardation, enlarged liver and spleen, cherry red spot on macula, foam cells from accumulation of sphingomyelin
NIEMANN-PICK DISEASE
Accumulation of dermatan sulfate and heparin sulfate that leads to mental retardation, coarse facial features, but with NO corneal clouding
HUNTER SYNDROME
Accumulation of GAGs that results in skeletal dysplasia, short stature, but with no CNS involvement
MORQUIO SYNDROME
Severe mental retardation, coarse facial features, and skeletal abnormalities from accumulation of partially degraded glycoproteins in lysosomes
I-CELL DISEASE
Acute arthritis with deposition of uric acid crystals
GOUT
Gout and self-mutilation
LESCH-NYHAN SYNDROME
HGPRT Deficiency
Glycogen storage disease associated with gout
VON GIERKE DISEASE
Glucose-6-Phosphatase Deficiency
Severe combined immunodeficiency
ADENOSINE DEAMINASE DEFICIENCY
Abnormal growth, megaloblastic anemia, orotate in urine
OROTIC ACIDURIA
