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10 Cards in this Set

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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
depressed reflexes
blunted parathyroid response to hypocalcemia

dietary cause
Mg deficiency (rare)
reversible cardiomyopathy

dietary cause
Selenium deficiency (rare)
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
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
Pompe Dz
lysosomal storage dz
glycogen fragments accum in lysosomes --> musc, liver, kidney
muscle glycogen phosphorlyase def
McArdle Dz
musc wkness, potential cardiomyopathy
muscle biopsy shows glycogen deposits
(no hypoglycemia or hypoketosis)