Term
| Teratogenic that causes Ebstein's anomaly? |
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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. |
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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? |
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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. |
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Term
| Pregnant woman with PKU does not adhere to diet. What are the potential effects to her fetus? |
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Definition
| Microcephaly, mental retardation, congenital heart disease. |
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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? |
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Definition
| Homocysteinuria. Blocks metabolic pathway that converts methionine to cysteine and serine. Tx is dietary restriction |
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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. |
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Definition
| Galactosemia caused by reduction in galactose-1-phosphate uridyl transferase. |
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Term
Infant has hypoglycemia, lactic acidemia, normal liver size.
May eventually have hepatomegaly, slow groth, diarrhea, bleeding, disorder, gout, hypertriglyceridemia, xanthomas. |
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Definition
| Type 1 von Gierke (Glucose-6-phosphatase); AR |
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Term
Infant may have muscle weakness and or cardiomegaly.
Eventually has symmetric profound muscle weakness, cardiomegaly, heart failure, shortened PR interval. |
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Definition
| Type II Pompe (Lysosomal alpha glucosidase); AR |
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Term
No neonatal manifestations
Muscle fatigue beginning in adolesence.
Good prognosis with sedentary lifestyle |
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Definition
| Type V McArdle (Muscle phosphorylase). |
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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. |
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Definition
| Ornithine Transcarbamylase Deficiency (OTCD); X linked; Ornithine joins with carbamylphosphate through OTC to form citrulline within the mitochondria |
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Term
| Male has macrosomia at birth, macro-orchidism, dysmorphic facial features and severe delay in expressive language, also has autistic features. |
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Definition
| Fragile X syndrome. Detected by distal end of long arm of X chromosome. |
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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 |
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Definition
| Trisomy 21 which results from chromosomal nondisjunction during maternal meiosis, most commonly |
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Term
| Microcephaly, profound mental retardation, cataracts, short arm of chromosome 5 p |
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Definition
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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 |
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Definition
| Prader-Willi. Lack of paternal copy of chromosome 15 |
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