Term
| What enzyme is deficient in Von Gierke disease? |
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Definition
| glucose 6-phosphatase deficiency |
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Term
| What are the symptoms of von gierke disease? |
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Definition
| hypoglycemia, lactic acidosis, hyperuricemia, hyperlipidemia |
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Term
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Definition
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Term
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Definition
| glucose-6-P translocase def |
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Term
| What are the features of glucose-6-P translocase def.? |
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Definition
| hypoglycemia, lactic acidosis, hyperuricemia, hyperlipidemia, neutropenia, hepatomegally, weakness, facial features |
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Term
| Which glycogen storage diseases are associated with puffy cheeks? |
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Definition
| GSDIa (von gierke) and GSD1b |
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Term
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Definition
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Term
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Definition
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Term
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Definition
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Term
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Definition
|
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Term
| How do you treat Von Gierke's disorder? |
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Definition
| nocturnal NG feedings, avoid fasting |
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Term
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Definition
| nocturnal NG feedings, avoid fasting, neutropenia precaution |
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Term
| What is the typical presentation of Pompei diesase? |
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Definition
| weakness, hypotonia, cardiomyopathy |
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Term
| What are the EKG findings of Pompei? |
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Definition
| short PR intervals, wide QRS |
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Term
| How do you treat pompei's disease? |
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Definition
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Term
| What is the typical presentation of debrancher deficiency? |
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Definition
| hepatomegaly, hyperuricemia, hyperlipidemia: normal lactate |
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Term
| What are the symptoms of brancher deficiency? |
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Definition
| fatal liver disease (amylopectinosis) |
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Term
| How is debrancher deficiency treated? |
|
Definition
| nocturnal NG feedings, avoid fasting |
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Term
| How is brancher deficiency treated? |
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Definition
|
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Term
| How is McCardle disease treated? |
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Definition
| avoid excess exercise to prevent rhabdomyolysis |
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Term
| Which glycogen storage disease only affects the muscle? |
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Definition
|
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Term
| What kind of disorders are mucopolysaccharidosis? |
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Definition
| lysosomal storage diseases |
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Term
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Definition
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Term
| What are the symptoms of Hurler syndrome? |
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Definition
| developmental regression, large head, coarse facies, corneal clouding, hepatosplenomegaly, dysostosis multiplex |
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Term
| What is the treatment for Hurler syndrome? |
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Definition
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Term
| What are the lab findings of Hurler syndrome? |
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Definition
| dermatan and heparan sulfate in urine |
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Term
| What is the inheritance pattern of Hurler syndrome? |
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Definition
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Term
| What enzyme is deficient in Hurler syndrome? |
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Definition
| alpha L-iduronidase deficiency |
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Term
| What is Hurler-Scheie syndrome? |
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Definition
| a milder form of Hurlers that has symptoms such as corneal clouding, characeteristic facial features, joint contractures, short stature, mitral valve prolapse, and learning problems |
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Term
| Irregular, bullet-shaped metacarpals are characteristic of... |
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Definition
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Term
| Broad ribs are characteristic of... |
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Definition
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Term
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Definition
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Term
| What is the deficient in Hunter syndrome? |
|
Definition
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Term
| What are the lab findings of hunter syndrome? |
|
Definition
| dermatan and heparan sulfate in urine |
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Term
| What is the difference between Hunter and Hurler? |
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Definition
| hunter has no corneal clouding and has x-linked inheritance instead of AR |
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Term
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Definition
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Term
| What are the symptoms of Sanfilipo? |
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Definition
| less severe somatic features, developmental delay, behavioral problems, neurological regression (normal until 5 years of age then regression) |
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Term
| What are the symptoms of Morquio syndrome? |
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Definition
| short stature, joint laxity, multiple skeletal deformity, odontoid hypoplasia |
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Term
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Definition
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Term
|
Definition
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Term
| What are the symptoms of Maroteaux lamy? |
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Definition
| hurler-like skeletal features, dysostosis multiplex, relative sparing of CNS |
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Term
| How do you treat maroteaux lamy? |
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Definition
| BMT, enzyme replacement with synthetic protein with mannose 6-phophate residues fo rlysosomal targeting (weekly 4 hour infusions) |
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Term
| What type of disease is Neimann-Pick? |
|
Definition
| glycolipidosis (a type of lysosomal storage disease) |
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Term
| What are the features of glycolipidosis? |
|
Definition
| developmental regressiona nd neurological problems starting in infancy, cherry red macula, hepatosplenomegaly |
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Term
| How do you diagnose Neimann-Pick Disease type A? |
|
Definition
| foam cells; sphingomyelinase assay |
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Term
| Name the disorders associated with a cherry red macula. |
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Definition
| Neimann-Pick A, GM1 gangliosidosis, Tay-Sachs disease, Sandhoff disease, Farber lipogranulomatosis, sialidosis |
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Term
| Tay Sachs is due to a defiency in.. |
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Definition
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Term
| What are the symptoms of Tay Sachs? |
|
Definition
| onset 3-5 months, hypotonia, motor weakness, exaggerated startle to noise, cherry red macula, reapid decline (blindness, deafness, decerebrate) |
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Term
| What is the neonatal presentation of GM1 gangliosidosis? |
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Definition
|
|
Term
| What are the symptoms of metachromatic leukodystrophy? |
|
Definition
| rapid developmental regression starting in late infancy |
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|
Term
| What is the pathophysiology of metachromatic leukodystrophy? |
|
Definition
| lysosomal accumulation of sulfatides |
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|
Term
| What type of disease is alpha mannosidosis? |
|
Definition
| glycoprotein degredation disorder |
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Term
| How do you treat Gaucher disease? |
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Definition
|
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Term
| What are the symptoms of peroxisomal biogenesis disorder (Zellweger spectrum)? |
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Definition
| hypotonia, developmental delay, poor feeding poor growth |
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Term
| What are the lab values associated with peroxisome disorder? |
|
Definition
| elevated very long chain fatty acids, elevated pristanic acid and phytanic acid, elevated bile acid intermediates, elevated pipecolic acid, decreased plasmalogens |
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Term
| What are the lab values associated with D-bifunctional protein deficiency? |
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Definition
| elevated very long chain fatty acids, elevated bile acid intermediates, elevated phytanic and pristanic acids, normal plasmalogens, normal pipecolic acid |
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Term
| What screening tests should you order for peroxisomal disorders? |
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Definition
| very long chain fatty acids, phytanic acids, plasmalogens, bile acid intermediates, pipecolic acid |
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Term
| What is the inheritance pattern of MELAS? |
|
Definition
|
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Term
| What are the findings associated with MELAS? |
|
Definition
| myoclonic epilepsy, lactic acidosis stroke-like episodes |
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Term
| What are the findings associated with MERRF? |
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Definition
| myoclonic epilepsy with ragged red fibers |
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Term
| What is the inheritance pattern of NARP? |
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Definition
|
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Term
| What are the findings associated with NARP? |
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Definition
| neuropathy, ataxia, retinitis pigmentosa |
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Term
| Nonsyndromic deafness/diabetes is associated with what kind of inheritance? |
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Definition
|
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Term
| What is the inheritance pattern of Kearn Sayres? |
|
Definition
|
|
Term
| What is the inheritance pattern of Pearson syndrome? |
|
Definition
|
|
Term
| What is the inheritance pattern of Leigh syndrome? |
|
Definition
|
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Term
| Mitochondrial disorders caused by mutations in nucear encoded genes are associated with what type of inheritance? |
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Definition
|
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Term
| What are the lab findings associated with Smith-Lemli-Opitz syndrome? |
|
Definition
| low choelsterol, elevated 7-dehydrocholesterol |
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|
Term
| What are the symptoms of Smith-Lemli-Opitz syndrome? |
|
Definition
| poor feeding, pyloric stenosis, failure to thrive, syndactyly of 2nd and third toes; polydactyly, cleft palate, pyloric stenosis, heart defects, ambiguous genitalia, mental retardation |
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