Rancid butter or cabbage-like smell in urine is seen in which of the following condition?
Tyrosinemia is an autosomal recessive disease induced by a deficiency of cytoplasmic tyrosine aminotransferase related to a defect on chromosome bands 16q22.1-22.3. One of the symptoms of Tyrosinaemia type 1 is a odor like cabbage or rancid butter. Diet restriction of phenylalanine and tyrosine leads to amelioration of cutaneous symptoms and eye lesions. Prenatal diagnosis is possible by amniocentesis with tyrosine aminotransferase assay and DNA analysis. The skin is not involved in tyrosinemia types I and III, but it is involved in tyrosinemia II, which is also called the oculocutaneous tyrosinemia and Richner-Hanha syndrome. The blood and urine tyrosine levels of affected patients are markedly elevated. Levels of other amino acids are not increased. Urinary tyrosine metabolite levels are elevated; these include p-hydroxyphenylpyruvic acid, p-hydroxyphenyllactic acid, p-hydroxyphenylacetic acid, and N-acetyltyrosine. Body Odour Questions ConditionOdour Oast-House Syndrome The urine has an odour similar to that of dried celery, yeast or malt, or an oasthouse Hypermethioninemia May experience a fishy, sweety and fruity, rancid butter or boiled cabbage odor Tyrosinaemia Cabbage or Rancid butter. Cystinuria Because cystine is one of the sulfur-containing amino acids, the urine may have a characteristic "rotten egg" odor. Diabetic Ketoacidosis The patient may have a fruity breath, a sweet taste on the skin, or emanate a distinctive, chemical smell. Isovaleric Acidaemia A symptom of isovaleric acidemia is an odour of cheesy, acrid, sweaty feet. Phenylketunuria The person may present with a musty, mousy, wolflike, barny, horsey or stale smell. Trimethylaminuria The odour produced is similar to decaying fish. Maple Syrup Urine Disease Patients smell like caramel, maple syrup or have a malty odor. Ref: Itin P.H. (2012). Chapter 131. Cutaneous Changes in Errors of Amino Acid Metabolism. In L.A. Goldsmith, S.I. Katz, B.A. Gilchrest, A.S. Paller, D.J. Leffell, N.A. Dallas (Eds), Fitzpatrick's Dermatology in General Medicine, 8e.
Maple Syrup Urine Disease
Isovaleric Acidaemia
3-Methylcrotonylglycinuria
Tyrosinaemia