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خرید پکیج
تعداد آیتم قابل مشاهده باقیمانده : 3 مورد
نسخه الکترونیک
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Odor and inborn errors of metabolism

Odor and inborn errors of metabolism
Odor Compound Disorder – source
Musty, mousy Phenylacetic acid Classical phenylketonuria
Maple syrup or burnt sugar 2-Oxoisocaproic acid, 2-Oxo-3-methylvaleric acid Maple syrup urine disease
Sweaty feet Isovaleric acid

Isovaleric acidemia

3-Hydroxy-3-methylglutaric aciduria
Butanoic acid, 2-methylpropanoic acid Multiple acyl-CoA dehydrogenase deficiency
Cat urine 3-Hydroxyisovaleric acid, 3-methylcrotonic acid

3-Methylcrotonylglycinuria

Multiple carboxylase deficiency
Cabbage like 2-Oxobutyric acid

Methionine malabsorption

Tyrosinemia 1
Rancid butter 2-Oxo-4-methiobutyric acid Tyrosinemia 1
Acid smell Methylmalonic acid Methylmalonic acidemia
Sulfurous Hydrogen sulfide Cystinuria
Fish market

Trimethylamine

Dimethylglycine

Trimethylaminuria

Dimethylglycinuria
Reprinted by permission from Springer: Gibson KM, Duran M. Simple Tests. In: Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases by Blau N, Duran M, Gibson KM, Dionisi-Vici C (Eds). Copyright © 2014.
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