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>Journals >Revista Médica MD >Year 2013, Issue 3

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
Fanconi-Bickel-like syndrome associated to maple syrup urine disease
Rev Med MD 2013; 4.5 (3)

Language: Español
References: 29
Page: 197-203
PDF: 603.20 Kb.

Full text


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.

Key words: ketoaciduria, hepatorrenal síndrome, dihidrolipoamida dehydrogenase deficiency, hyperlactacidemia.


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>Journals >Revista Médica MD >Year 2013, Issue 3

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