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Genetic Disorders
Blueprints
13
Medical
Graduate
02/09/2014

Additional Medical Flashcards

 


 

Cards

Term
Teratogenic that causes Ebstein's anomaly?
Definition
Lithum;

is a congenital heart defect in which the septal leaflet of the tricuspid valve is displaced towards the apex of the right ventricle of the heart.
Term
Patient has mental retardation, hypertonicity, tremors, and behavioral problems, as well as hypopigmentation? Disease presented in childhood. What is the IEM and what is the treatment? Why does this patient have hypopigmentation?
Definition
PKU, most common IEM. Deficiency in phenylalanine hydroxylase causes high serum concentrations of phenylacetic acid and phenyllactic acid. Tyrosine is needed for melanin. Tx is avoidance of phenylalanine in diet.
Term
Pregnant woman with PKU does not adhere to diet. What are the potential effects to her fetus?
Definition
Microcephaly, mental retardation, congenital heart disease.
Term
Child has a Marfan's body habitus, dislocated eye lenses, mild mental retardation, and vascular thromboses that result in childhood stroke or MI. What disease does he have?
Definition
Homocysteinuria. Blocks metabolic pathway that converts methionine to cysteine and serine. Tx is dietary restriction
Term
Infant develops hepatomegaly, direct hyperbilirubinemia, coagulopathy, acidosis, glycosuria, aminoaciduria, poor growth after feeding. Eventually, develops cataracts and E. coli sepsis.

Lab testing show elevated liver enzymes, prolonged PT and PTT, hypoglycemia, and albuminuria.
Definition
Galactosemia caused by reduction in galactose-1-phosphate uridyl transferase.
Term
Infant has hypoglycemia, lactic acidemia, normal liver size.

May eventually have hepatomegaly, slow groth, diarrhea, bleeding, disorder, gout, hypertriglyceridemia, xanthomas.
Definition
Type 1 von Gierke (Glucose-6-phosphatase); AR
Term
Infant may have muscle weakness and or cardiomegaly.

Eventually has symmetric profound muscle weakness, cardiomegaly, heart failure, shortened PR interval.
Definition
Type II Pompe (Lysosomal alpha glucosidase); AR
Term
No neonatal manifestations

Muscle fatigue beginning in adolesence.

Good prognosis with sedentary lifestyle
Definition
Type V McArdle (Muscle phosphorylase).
Term
Within 24-48 hours of protein containing feedings, infant is lethargic and have seizures. Ammonia levels found to be greater than 500.

Infant has a sister who develops headaches and emesis after protein meals. She also has mental retardation and learning disabilities.
Definition
Ornithine Transcarbamylase Deficiency (OTCD); X linked; Ornithine joins with carbamylphosphate through OTC to form citrulline within the mitochondria
Term
Male has macrosomia at birth, macro-orchidism, dysmorphic facial features and severe delay in expressive language, also has autistic features.
Definition
Fragile X syndrome. Detected by distal end of long arm of X chromosome.
Term
Flat facial profile, upslanted palpebral fissures, flat nasal bridge with epicanthal folds, small mouth with protruding tongue, micrognathia, short ears, excess skin on back of neck, flat occiput, microcephaly, short stature, short sternum, small genitalia, sandal gap toe, single palmar crease.

Hypotonia, OSA, endocardial cushion defects, duodenal atresia and Hirschsprung's disease, hypothyroidism, moderate MR.

Higher frequency of leukemia
Definition
Trisomy 21 which results from chromosomal nondisjunction during maternal meiosis, most commonly
Term
Microcephaly, profound mental retardation, cataracts, short arm of chromosome 5 p
Definition
Cri-du-chat
Term
Interstitial deletion of long arm of chromosome 15.

Narrow bifrontal diameter, almond shaped palpebral fissures, down turned mouth, small hands and feet, short stature, hypogonadism, FTT as an infant with central obesity in childhood due to appetite dysregulation. OSA, Pickwickian syndrome (obesity hypoventilation), severe developmental delay
Definition
Prader-Willi. Lack of paternal copy of chromosome 15
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