Long shot, but I knew I'd heard about the cat pee smell being a symptom of something....
3-Methylcrotonylglycinuria, multiple carboxylase deficiency or 3MCC is another autosomal recessive genetic trait means that this faulty gene usually appears when two carriers have children together and pass it to their offspring. In this case the body is unable to process certain proteins properly. Patients have abnormal levels of an enzyme that helps break down proteins containing the building block (amino acid) called leucine. As a carboxylase enzyme, 3-MCC requires biotin for activity. There are four carboxylases in humans that use biotin and each can be deficient singly or together. If biotin metabolism is defective, functions of all four carboxylases will be low, resulting in Multiple Carboxylase Deficiency. MCC is predominantly located in the inner membrane of the mitochondria. The patient presents an odor like male cat urine.
|