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86 Cards in this Set
- Front
- Back
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two x-linked recessive metabolic disorders
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Hunter's syndrome
Fabry's disease |
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why are babies normal at birth with metabolic disorders
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because mom was getting rid of the toxic products
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lipidose lysosomal storage diseases
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Tay-Sachs disease
Niemann-Pick disease Gaucher's disease |
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disease associated with deficiency in hexosamindase A with accumulation of ganglioside GM2
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Tay-Sachs disease
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what is associated with accumulation of ganglioside GM2
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Tay-Sachs disease
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characteristics of Tay-Sachs disease
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cherry red macula
lipid accumulation in the neurons |
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disease associated with accumulation of sphingomyelin
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Neimann-Pick disease
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associated with lipid accumulation in macrophages as well as neurons
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Niemann-Pick disease
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lysosomal storage disease associated with deficiency in glucocerebrosidase
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Gaucher's disease
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lipid accumulation is only seen in macrophages with no significant neuronal involvement
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Gaucher's disesae
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polymers of disaccharides containing N-actylhexosamine
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mucopolysaccharides
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mucopolysaccharide lysosomal storage disease
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Hurler's syndrome
Hunter's syndrome (x-linked recessive) |
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lysosomal storage disease associated with coarse facial features (gargoylism), corneal clouding, and cardiac valvular deposition
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Hurler's/Hunter's syndrome
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associated with GAG deposition in Kupffer cells leading to hepatosplenomegaly
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Hurler's/Hunter's syndrome
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Glycogen storage diseases
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Von Gierke's
McArdle's Pompe's |
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disease associated with deficiency of hepatic glycogenolysis resulting in hepatomegaly and hypoglycemia
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Von Gierke's disease
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disease associated with deficiency of glycolysis in skeletal muscle resulting in weakness and severe muscle cramps following exercise
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McArdle's disease
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only glycogen storage disease resulting in lysosomal storage, results in cardiac failure
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Pompe's disease
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deficiency seen in PKU
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phenylalanine hydroxylase
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characteristics of PKU
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fair skin, blond hair, blue eyes
musty odor mental retardation |
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deficiency of fumarylacetoacetase
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tyrosinemia
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Lab findings in tyroseinemia
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increased succinylacetone in blood and urine
aFP elevation from liver injury elevated blood tyrosin levels |
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what can result from tyrosinemia
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liver cirrhosis and eventually hepatocellular carcinoma
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lack of homogentisic acid oxidase
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alcaptonuria (onchronosis)
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onchronosis is associated with deficiency in the metabolism of what AA
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tyrosine
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characteristics of alcaptonuria
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black pigment in sclera and articular cartilage
result in debilitating arthritis |
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two types of albinism
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tyrosinase positive - most common with small amounts of pigment
tyrosinase negative - lack of pigment with severe photophobia, solar-induced skin cancers |
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enzyme deficiency in galactosemia
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galactose-1-phosphate uridyl transferase
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deficiency associated with childhood cirrhosis and panacinar emphysema
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a-1-antitrypsin deficiency
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pathophys of a-1-antitrypsin deficicnecy
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a-1-antitrypsin in a protease inhibitor, lack of this results in excessive tissue damage
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disease associated with PAS positive globules in cytoplasm of hepatocytes
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a-1-antitrypsin deficiency
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defects of copper transporting ATPase (ATP7B)
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Wilson's disease
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genetic defect of Hemochromatosis
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mutation in HFE gene resulting in excessive iron absorption in gut
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bronze diabetes
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hemochromatosis
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most common acylCoA dependent fatty acid dehydrogenase deficiency
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MCAD deficiency
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function of AcylCoA dehydrogenase
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first step in B-oxidation
deficiency leads to fatty enlargement of the liver |
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important step for neonatal screening for metabolic disorders
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baby must be exposed to normal diet so that abnormal metabolic products build up to abnormal levels
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disturbance or errors in marophogenesis
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malformation
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when do most malformations occur
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during first trimester
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secondary changes imposed on initially normal formed organs/tissues
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deformations/disruptions
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collection of abnormalities which tend to associated together
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syndrome
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predictable set of secondary features resulting from a single primary abnormality
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sequence
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are neural tube defects malformations or deformations
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malformations
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what is renal dysplasia associated with
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oligohydramnios sequence
malformation of kidneys --> oligohydramnios sequence and deformations |
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what is caudal regression syndrome associated with
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diabetic embryopathy
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what is thought to cause defects in diabetic mothers
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hyperglycemia leading to increased apoptosis
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associated with growth retardation, microcephaly, hyperactivity
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fetal alcohol exposure
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implicated as the cause of abnormalities in fetal alcohol exposure
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acetaldehyde leading to inhibition of DNA synthesis and triggering apoptosis in the developing brain
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effects seen in isoretinoin embryopathy
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profound mental retradation
structural CNS defects abnormal ears congenital heart disease adrenal hypoplasia |
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anticonvulsant that is a known teratogen
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phenytoin
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drug used to treat nausea in pregnancy that is associated with limb defects
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thalidomide
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TORCH
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Toxoplasmosis
other - listeria and syphilis Rubella CMC Herpes |
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associated with blueberry muffin babies (thrombocytopenia and jaundice)
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TORCH infections
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what results in acute lung injury leading to hyaline membrane disease in preterm newborn
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tissue hypoxia and acidosis from immature fetal lungs causing localized damage to capillaries and alveoli resulting in necrotic alveolar lining cells and leading plasma proteins
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bronchopulmonary dysplasia
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mechanical damage to bronchioles rsulting from high oxygen administration and mechanical ventillation in immature fetal lungs
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three important complications related to hypoxia in preterm newborn
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1. intraventricular hemorrhage
2. necrotizing enterocolitis 3. persistent PDA |
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germinal matrix
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layer of immature developing brain tissue that lines the ventricles, highly vascular
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usual cause of intraventricular hemorrhage in preterm newborn
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hypoxia leading to increased blood pressure and hemorrhage of the germinal matrix
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degeneration and cystic change in the white matter adjacent to the ventricles in premature infants
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periventricular leukomalacia
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bilirubin encephalopathy
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unconjugated bilirubin accumulate in basal ganglia leading to spasticity and motor dysfunciton
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intestinal tract undergo ischemic necrosis and gangrene in newborn
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necrotizing enterocolitis
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retinopathy of prematurity
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high arterial oxygen concentration from treatment of RDS can result in vascular and fibrous proliferation of the retina
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two causes of hydrops fetalis
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1. Rh incompatability
2. 4 gene deletion a-thalassemia (Hb Bart's) |
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biliary atresia
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destruction of extrahepatic bile ducts resulting in progressive jaundice and acholic stools
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effect of genetic abnormality with mosaicism
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abnormality can be amerliorated to some degree due to normal cell lines being present
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3 different Down syndrome abnormalities
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1. nondisjunction (most common 95%)
2. robertsonian translocation 3. mosaicism |
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trisomy associated with overlapping fingers with clenched firsts
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trisomy 18
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trisomy associated with cleft lip and palate and brain malformations
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trisomy 13
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presence of three sets of each chromosome
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triploidy
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phenotypic males that is tall and slender with small penis and gynecomastia
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Klineflter syndrome (XXY)
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characteristics of Turner's syndrome
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short stature
webbed necked (lymphangioma) coarcation of aorta streaked gonads (few ova present) |
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expansion of CGG trinucleotide repeat adjacent to FMR1 gene
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fragile x syndrome
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what happens to FMR1 gene with the expanded repeat sequence
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silences the FMR1 gene (by methylation) and results in fragile sites on the X chromosome
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most common form of familial mental retardation
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fragile x syndrome
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what types of disease can uniparental disomy be a problem
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those in which genes are imprinted such as Prader-Willi. Prader-Willi results from either loss of the paternally imprinted gene by deletion, mutation, or uniparentsl disomy with two copies of maternal origin
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associated with multiple neurofibromas, cafe au lait spots, and Lisch nodules (pigmented lesions) of the irits
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neurofibromatosis type 1
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function of neurofibromin
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neurofromin is GAP protein (GTPase activating protein) that inactivates RAS protein
NF1 gene is a tumor suppressor gene that makes neurofibromin |
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function of fibrillin
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foms threadlike scaffold for elastic fibers
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autosomal dominant disorder resulting in elevated serum cholesterol and accleration of ahteroslcerotic disease
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familial hypercholesterosemia with deficiency of LDL receptors
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cancer associated with t(8:14) translocation results in positioning of the C-myc oncogene next to actively transcribed region
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Burkitt's lymphoma
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colon cancer due to defect in DNA mismatch repair
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hereditary nonpolyposis colorectal cancer
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storage disease associated with foam cells
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Niemann-Pick disease
*bubbles of fat in macrophages and neurons |
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storage disease associated with macrophage cytoplasm with "wrinkled tissue paper"
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Gacher's disease
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which storage disease is associated with degenerative changes in the bones, erlenmeyer flask deformity
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Gaucher's disease
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findings in TORCH infections
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petechiae and purpura
microcephaly cardiac defects pneumonitis chorioretinits |
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metabolic deficiency that may resemble SIDS (sudden infant death syndrome)
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MCAD deficiency
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