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10 Cards in this Set
- Front
- Back
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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) |
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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 |
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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 |
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carnithine uptake deficiency
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sim to LCAD but no accum of carnithine esters in serum and muscle
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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 |
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alpha 1,4 glucosidase def
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Pompe Dz
lysosomal storage dz glycogen fragments accum in lysosomes --> musc, liver, kidney |
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muscle glycogen phosphorlyase def
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McArdle Dz
musc wkness, potential cardiomyopathy muscle biopsy shows glycogen deposits (no hypoglycemia or hypoketosis) |
