Question about genetic disorder

Question about genetic disorder

Posted in the Genetics Forum

Marina

Netherlands

#1 Jun 29, 2013
Hello,

I have a question about a genetic disorder, or possibly a combination of two, and perhaps someone here might be able to help.

There was an infant (recently deceased) which presented with acute symptoms at age 4.5 months which led to the discovery that she was carrying the mitochondrial mutation m.8993T>G manifested as Leigh syndrome.

During the differential diagnosis screening was performed for biotinidase deficiency and her value was found at 3.10 mmol/min*ml plasma. The particular laboratory places the reference range for heterozygosity between 2.2 - 5.2 mmol/min*ml.

My question is whether:
a) this test result is indicative that the infant was also heterozygous for lack of biotinidase (mutation at the BTD gene)?
b) if that's the case, could that have exacerbated the manifested Leigh syndrome (given that biotinidase deficiency may also lead to Leigh syndrome) or is heterozygosity not enough to present symptoms?

Many thanks in advance for any help!

Marina

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