Odor and inborn errors of metabolism

Odor	Compound	Disorder–source
Musty, mousey	Phenylacetic acid	Classical PKU; treatment of urea cycle disorders with phenylacetate
Maple syrup or burnt sugar	Sotolone (4,5-dimethyl-3-hydroxy-2[5H]-furanone)	MSUD; fenugreek; lovage
Sweaty feet	Isovaleric acid	Isovaleric acidemia 3-Hydroxy-3-methylglutaric aciduria
Sweaty feet	Idem + butyric + isobutyric acid	MADD (glutaric aciduria type 2)
Cat urine	3-Hydroxyisovaleric acid/3-methylcrotonic acid	3-Methylcrotonylglycinuria Multiple carboxylase deficiency
Cabbage-like	Dimethylsulfide	Methionine adenosyltransferase deficiency (Mudd disease); methanethiol oxidase deficiency; DMSO cryoprotectant (HCT)
	Methanethiol	Methanethiol oxidase deficiency
	2-Oxo-4-methylthiolbutyric acid	Tyrosinemia type 1
Rancid butter	2-Oxo-4-methylthiolbutyric acid	Tyrosinemia type 1
Rotten eggs	Sulfur	Cystinuria, cysteamine administration
Fish	Trimethylamine	Trimethylaminuria; carnitine supplementation
Fish	Dimethylglycine	Dimethylglycinuria
Dried malt or hops, celery or yeast	Alpha-hydroxybutyric acid	Oasthouse syndrome (methionine malabsorption)
Swimming pool, chlorine	4-Hydroxyphenylpyruvic acid (?)	Hawkinsinuria

DMSO: dimethyl sulfoxide; HCT: hematopoietic cell transplantation; MADD: multiple acyl-CoA dehydrogenase deficiency; MSUD: maple syrup urine disease; PKU: phenylketonuria.

Reproduced with permission from: Ferreira CR, Blau N. Simple tests and routine chemistry. In: Physician's Guide to the Diagnosis, Treatment and Follow-Up of Inherited Metabolic Disease, 2nd ed, Blau N, Dionisi Vici C, Ferreira CR, et al (Eds), Springer Cham 2022. p.17. Copyright © 2022 Springer Nature Switzerland AG. https://link.springer.com/book/10.1007/978-3-030-67727-5.

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Odor and inborn errors of metabolism