Newly diagnosed

[christina]

Hi everybody,

My name is Christina and my 2 year old son has just been diagnosed with HFI. It has been a difficult journey as we had no idea what was wrong with him. The only symptom that he had and issue was high liver enzymes which resulted us to go for a scan where we found he had a fatty liver. Even though he never really liked anything sweet, on the odd occasion he did have a bit of cake, fruit or ice cream and not once became ill.....however on Friday we received the test results from Cambridge conforming HFI.

This is what was written on the report: 

Hereditary fructose intolerance (HFI) is associated with pathogenic variants in the aldolase beta gene (ALDOB). DNA from Giorgos has been screened for variants in coding exons 2-9 of the ALDOB gene.

Fluorescent sequencing analysis has shown that Giorgos is heterozygous for the pathogenic variants c.448G>C, p.(Ala150Pro) and c.524C>A, p. (Ala175Asp) in exon 5 of the ALDOB gene.

Therefore, assuming biparental inheritance, this result is consistent with a diagnosis of HFI in Giorgos.

If available, please send DNA from Giorgos’ parents so that we can determine the inheritance of these variants. We recommend genetic counselling is given prior to testing.


Any comments would be great, thank you

P.S Bill has helped me educate myself regarding his food and he is the BEST

[Stefanie (Ziba)]

Heterozygous means one copy, so I am surprised they are giving the HFI diagnosis. Researchers are just now starting to study whether heterozygotes exhibit disease symptoms.

[ukbill]

Apparently one Gene is a Aldob B killer.

If that gene is damaged then no Aldob B will be produced anywhere in the body.

Proof (if any was needed ) that a severe form exists where zero Fructose it tolerated.

This is the form I also seem to have.

Hopefully tests in 2019 will give me a proper diagnosis.

[hfimomof3]

It sounds like she has two different nonfunctional alleles and is heterozygous for each allele. Since each allele is nonfunctional (ie cannot metabolise fructose), she is actually homozygous for nonfunctional AldoB gene as a whole and has no overall AldolaseB function. That is how I interpret the information you gave.

[christina]

Jan 9, 2019 9:29:53 GMT -5 hfimomof3 said:

It sounds like she has two different nonfunctional alleles and is heterozygous for each allele. Since each allele is nonfunctional (ie cannot metabolise fructose), she is actually homozygous for nonfunctional AldoB gene as a whole and has no overall AldolaseB function. That is how I interpret the information you gave.

[christina]

Jan 9, 2019 9:29:53 GMT -5 hfimomof3 said:

It sounds like she has two different nonfunctional alleles and is heterozygous for each allele. Since each allele is nonfunctional (ie cannot metabolise fructose), she is actually homozygous for nonfunctional AldoB gene as a whole and has no overall AldolaseB function. That is how I interpret the information you gave.

[hfimomof3]

I noticed you re-posted twice. Did you have a question? How are things going?

[christina]

Mar 7, 2019 12:17:21 GMT -5 hfimomof3 said:

I noticed you re-posted twice. Did you have a question? How are things going?

Sorry that was a mistake....however things are great! we are in a very good routine and all my worries concerning diet have disappeared as we have found substitutes for everything.