Moreno AJA, Martínez RA, Matínez RL, Suárez BB, Valdés FY

Language: Spanish
References: 13
Page: 48-50
PDF size: 455.69 Kb.

ABSTRACT

Biotinidase deficiency is an inheritable autosomal recessive disorder, with the affected patients suffering convulsive crises, hypotonia, ataxia, skin rash, alopecia and neurological disorders. A low enzymatic case is presented, detected by the National Neonatal Screening Program using the SUMA technology that was confirmed as biotinidase deficient in The National Center of Medical Genetics by means of the colorimetric quantitative method, as having an enzymatic activity value equal to 0,09 nmoL/mL/min. This case constitutes the first confirmatory diagnosis of deep biotinidase deficiency in Guantánamo province, allowing giving the family an accurate genetic counseling.

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