mjl1717
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This disease is probably responsible for 1 out 100 deaths in SIDS,The Sx are metabolic acidosis, hypoglycemia, lethargy coma.(25% die during their first crisis
What disease is this?
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| mash
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MCAD deficiency??
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| mjl1717
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You-have it!!
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| tasneembanu
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can u pls explain me ab't Mcad def?
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| docarjun
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Medium chain acyl CoA dehydrogenase (MCAD) deficiency is an autosomal recessive disorder of beta-oxidation of fatty acids, which occurs in approximately 1 in 20,000 live births. MCAD generally presents clinically between the second month and second year of life .
CLINICAL FEATURES- hypoglycemia, vomiting, lethargy, encephalopathy, respiratory arrest, hepatomegaly, seizures, apnea, cardiac arrest, coma, and sudden death.
Metabolic stress induced by fasting or infection, when the demands on fatty acid oxidation are particularly high, that time MCAD-deficient patient may present with symptoms and aggrevates the symptoms.
there is close association of MCAD deficiency and Sudden infant death syndrome!
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| tasneembanu
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thanks docarjun.
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