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3-hydroxy-3-methylglutaryl-CoA lyase / Rare diseases / Hypoglycemia / Pediatrics / Glutaric aciduria type 1 / Glycogen storage disease type I / Health / Medicine / 3-hydroxy-3-methylglutaryl-CoA lyase deficiency


Disease Name Hydroxymethylglutaric aciduria (3-OH 3-CH3 glutaric aciduria) Alternate name(s)
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Document Date: 2014-09-11 22:04:08


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Facility

American College of Medical Genetics / /

MedicalCondition

lethargy / ketosis / mental retardation / CoA lyase deficiency / viral infection / acute illness / seizures / hypotonia / Symptoms Persistent vomiting / coma / MS / hypoglycemia / severe acidosis / apnea / /

Organization

American College of Medical Genetics / Organic Acidemia Association / /

Position

recessive General / /

URL

www.oaanews.org / www.savebabies.org / http /

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