About MINPP1
As parents, before reading any online article, it is crucial to understand that your child's gene specific mutation location and type will influence their own phenotype. Within the MINPP1 gene family, many phenotypes and scenarios are possible. Never focus on prognosis, always focus on getting an accurate diagnosis.
MINPP1 stands for Multiple Inositol-Polyphosphate Phosphatase 1. It plays a role in the inositol polyphosphate metabolism. In other words, the body's ability to metabolize this enzyme family. When the MINPP1 gene has mutations, it will code and produce an altered protein. This damaged protein will not efficiently manage inositol polyphosphate levels. Consequently, these levels become too high, especially phytic acid. Effects of these excessive levels are described in the medical articles below:
- OMIM (the largest gene database): https://www.omim.org/entry/619527?search=minpp1&highlight=minpp1
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Mala Cards (gives an overview within the pontocerebellar hypoplasia types): https://www.malacards.org/
card/pontocerebellar_ hypoplasia_type_16 -
European Study Group #1: https://www.ncbi.nlm.nih.gov/
pmc/articles/PMC7705663/ -
European Study Group #2: https://www.ncbi.nlm.nih.gov/
pmc/articles/PMC7940488/
Metabolism Summary:
“DON’T LET ANYBODY TELL YOU WHAT YOUR CHILD WILL OR WILL NOT DO. IT’S YOUR JOB TO FIND OUT. YOU WILL LEARN TO HELP THEM REACH THEIR FULL POTENTIAL, AND TO ACCEPT THEIR TRUE LIMITATIONS."