Hundreds of different metabolic disorders can impact every system in the body.
This article will discuss the different enzyme deficiencies, how they cause disease, and how they are treated.
Enzymes help catalyze and speed up these chemical processes within the body.
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Most enzymes are small proteins that live within cells.Most enzymes have very specific functions in the body.
Most commonly, issues such as the inability to gain weight, irritability, and fatigue are present.
Some metabolic disorders are not diagnosed until later in life.Glucose-6-phosphate dehydrogenase deficiency impacts red blood cells.
Oftentimes, this disorder may not be significant until later stages of life, and then it is diagnosed.
How Do You Know If You Have an Enzyme Deficiency?
Enzyme deficiencies are usually identified at birth or in early childhood.
However, some deficiencies are delayed and may not become known until later in life.
Assessment for metabolic disorders can be performed by a healthcare provider.
It is most often performed using blood tests.
In some cases, specific dietary changes are needed to reduce the effects of an enzyme disorder.
Treating an enzyme disorder often requires specialized medical care.
Unfortunately, many enzyme disorders lack effective treatment options.
Ongoing work aims to identify and validate new therapeutics to treat these conditions.
Recent innovations have brought new therapies and treatments for conditions like Hunter’s syndrome and more.
Ongoing Research Developments
New genetic tools are being researched for metabolic disorders.
Determining the specific enzymes that are deficient and the processes they control is necessary to determine the best treatments.
Some enzyme deficiencies have the option for enzyme replacement therapy while other deficiencies can be corrected by changing diet.
Research is developing new treatments for enzyme deficiencies.
If you suspect your child is showing signs of an enzyme deficiency, reach out to a healthcare provider.
Enzyme deficiencies are usually present when a child is born or revealed within the first few months of life.
Children with enzyme deficiencies may have difficulty gaining weight, frequent infections, or abnormally enlarged organs.
Supplements such as vitamins and minerals may help support metabolism.
The appropriate supplements for assisting someone with enzyme deficiency should be discussed with a healthcare provider.
In some cases, specific supplements need to be added to ensure the body is able to metabolize appropriately.
2015;109(6):1082-1086.
2019;26(16):2948-2961. doi:10.2174/0929867325666180313105949
Genetic and Rare Diseases Information Center.Glucose-6-phosphate dehydrogenase deficiency.
National Organization for Rare Diseases.Glucose-6-phosphate dehydrogenase deficiency.
Genetic and Rare Diseases Information Center.Glycogen storage disease due to glycogen debranching enzyme deficiency.
Ferreira CR, van Karnebeek CDM.Inborn errors of metabolism.Handb Clin Neurol.
2019;162:449-481. doi:10.1016/b978-0-444-64029-1.00022-9
Chen M, Zhang L, Quan S.Enzyme replacement therapy for infantile-onset Pompe disease.
Cochrane Database Syst Rev.
2017;11:CD011539.
