A member asked:

Is sanflippo syndrome a genetic disorder?

6 doctors weighed in across 2 answers
Dr. Johanna Fricke answered

Specializes in Pediatrics - Developmental and Behavioral

Sanfilippo Syndrome : Occurs by autosomal recessive inheritance. Both parents carry the faulty gene, giving each of their children a 25% chance of receiving it from both ; having the syndrome ; a 50% chance of receiving it from one ; being a carrier. In each of the 4 types of the syndrome, a specific enzyme that breaks down long chains of sugars is insufficient or absent. See http://mpssociety.Org for more info.

Answered 4/1/2014

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Dr. Anna-Kaisa Niemi answered

Specializes in Clinical Genetics

Yes it is: Sanfilippo syndrome (mucopolysaccharidosis type iii) is a genetic condition. It is inherited in an autosomal recessive way. It means that both copies of the gene of a patient have a mutation (we have 2 copies of each gene, one from each parent). Parents of a patient each carry one copy of the mutated gene, and another healthy copy so they typically do not show signs and symptoms of the condition.

Answered 5/8/2015

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