Fanconi-Bickel-like syndrome associated to maple syrup urine disease

Luis Javier Flores-Alvarado; Sergio Alberto Ramírez-García; Miriam Bueno-Topete; Nory O Dávalos-Rodríguez; Mónica Ayub-Ayala; Carmen Gurrola-Diaz; Sergio Sánchez-Enríquez; Rosalba Ruiz-Mejía; Nemesio Villa-Ruano; Lorena Ramón-Canul

2013, Number 3

Rev Med MD 2013; 4.5 (3)

Fanconi-Bickel-like syndrome associated to maple syrup urine disease

Flores-Alvarado LJ, Ramírez-García SA, Bueno-Topete M, Dávalos-Rodríguez NO, Ayub-Ayala M, Gurrola-Diaz C, Sánchez-Enríquez S, Ruiz-Mejía R, Villa-Ruano N, Ramón-Canul L

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Language: Spanish
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ABSTRACT

The maple syrup urine disease is an infrequent metabolism innate error, caused by a gene mutation to codify the proteins participating in the catabolism of the branched-chain aminoacids, which generate 5 variant. The most common variant is caused by a deficit of the BCKDHA enzyme and the least frequent by deficit of dihydrolipoamide dehydrogenase. We present a case of a newborn male with clinical traits of the classical variant such as high levels of breached-chain aminoacids, prolonged apnea, distinctive urine smell, as well as hypoglycemia and pathognomonic hyperlactacidemia of dihydrolipoamide dehydrogenase. The findings in this report are conclusive with a hepatorenal syndrome similar to Fanconi-Bickel associated to the joint deficiency of two enzymes of the BCKDHA complex, not described previously.

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