STEP 1 - biochem
Terms
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*elevated plasma methionine
*normal plasma cystathione & cysteine
*bilat lens dislocation
*stigmata similar to Marfan Syn
*tall stature for age
*kyphosis
*short trunk -
Cystathionine Synthase Deficiency
catalyzes homocyst-->cystathione
(homocyst is degrad product of methionine) -
mental retardation
pot belly
pale, puffy faced child
enlarged tongue
3rd world -
Cretinism
thyroid hormone deficiency
dietary iodine def
thyroxine synthesis def
developmental failure of thyroid formation -
hyperchromic, microcytic anemia
dietary cause - Fe deficiency
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depressed reflexes
blunted parathyroid response to hypocalcemia
dietary cause - Mg deficiency (rare)
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reversible cardiomyopathy
dietary cause - Selenium deficiency (rare)
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LCAD deficiency
(Long Chain AcylCoA Dehydrogenase) -
*pediatric
*deficiency in beta oxidation of FAs in mitochondria
*cardiac musc and resting skeletal musc use FA, ketones for primary energy
*muscle wkness, cardiomyopathy
*fasting hypoglycemia
*fasting hypoketosis
suggesting defect in FA ox
*carnithine esters in plasma - carnithine uptake deficiency
- sim to LCAD but no accum of carnithine esters in serum and muscle
- alpha L uronidase def
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Hurler Dz
lysosomal storage dz
cardiomyopathy, valvular defects, potential CAD
glycosamine (heparin sulfate and dermatan sulfate) accum
corneal clouding, mental retardation, skeletal abnorm - alpha 1,4 glucosidase def
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Pompe Dz
lysosomal storage dz
glycogen fragments accum in lysosomes --> musc, liver, kidney - muscle glycogen phosphorlyase def
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McArdle Dz
musc wkness, potential cardiomyopathy
muscle biopsy shows glycogen deposits
(no hypoglycemia or hypoketosis)