Diseases Flashcards
Chronic hemolytic anemia, most common enzyme defect in glycolysis
PYRUVATE KINASE DEFICIENCY
Congenital lactic acidosis, X-linked dominant condition
PYRUVATE DEHYDROGENASE DEFICIENCY
Flatulence, cramps, and diarrhea after ingestion of dairy products.
LACTOSE INTOLERANCE
Severe fasting hypoglycemia, hepatomegaly, elevated glycogen in liver
VON GIERXE DISEASE
Glucose 6- Phosf›hatase Deficiency
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 deicien
Myoglobinuria with strenuous exercise
MCARDLE SYNDROME
Skeletal Muscle Glycogen PhosRhorylase Deficiency
Decreased NADPH in RBCs leads to hemolytic anemia due to poor RBC defense against oxidizing agents
GLUOSE-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 lP Uridyltranserase De(iciency
Galactosemia, galactosuria, cataracts in early childhood
GALACTOKINASE DEFICIENCY
Essential fructosuria
FRUCTOKINASE DEFICIENCY
Fructosuria, severe hypoglycemia, lactic acidosis, liver damage, jaundice
FRUCTOSE INTOLERANCE
Aldolase B Deficiency
Progressive cognitive and behavioral impairment due to accumulation of amyloid plaques in the hippocampus and cerebral
cortex
ALZHEIMER DISEASE
Fatal neurodegenerative diseases characterized by spongiform changes, astrocytic gliomas, and neuronal loss
PRION DISEASES
Glutamate is replaced by valine at position 6 of the b-globin chain, causing hemoglobin that polymerizes inside the RBC
SICKLE CELL DISEASE
Synthesis of a-chains is decreased or absent
ALPHA THALASSEMIA
Synthesis of §-chains is decreased or absent
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
Berry aneurysms, hyperextensible skin, hypermobile joints, tendency to bleed
EHLERS-DANLOS SYNDROME
Loose teeth, sore spongy gums, poor wound healing, petechiae on skin and mucous membranes
SCURVY
The skin breaks and blisters as a result of minor trauma
EPIDERMOLYSIS BULLOSA DYSTROPHICA
Hereditary nephritis with sensorineural hearing loss
ALPORT SYNDROME
Aortic dilatation, dolichostenomelia, arachnodactyly
MARFAN SYNDROME
Panacinar emphysema and liver failure
A-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
Urine turns black upon standing with debilitating arthralgias
ALKAPTONURIA
Homogentisate oxidase deficiency
Decreased pigmentation that increases risk for skin cancer
ALBINISM
Atherosclerosis, lens subluxation, 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
Metabolic acidosis, reduced blood
flow leading to seizure, encephalopathy, and stroke in very young patients
METHYLMALONIC
ACIDEMIA
Methylmalonyl CoA Mutase Deficiency
Photosensitivity, chronic
inflammation to overt blistering and shearing in exposed areas of the skin due to defects in heme synthesis
PORPHYRIAS
Abdominal pain and neuro- psychiatric symptoms from accumulation of ALA and PBG
ACUTE
INTERMITTENT PORPHYRIA
UroRorphyrinogen I Synthase Deicien
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
COmRlete 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
