Table of ContentsView AllTable of ContentsEnzymesTypesSymptomsTreatmentResearchFrequently Asked Questions
Table of ContentsView All
View All
Table of Contents
Enzymes
Types
Symptoms
Treatment
Research
Frequently Asked Questions
When the production of key enzymes is missing or deficient at birth, it causes disease.Most enzyme deficiencies are genetic disorders that lead to errors in metabolism. When there is an error in metabolism, the body cannot process chemicals efficiently, which can lead to dysfunction.
Enzymes are small proteins located inside cells that help support chemical reactions important for managing sugar, vitamin, protein, and fat levels which are essential for body functions.Thousands of different enzymes play crucial roles in metabolism.
Hundreds of different metabolic disorders can impact every system in the body. Determining which specific enzymes are deficient and understanding the processes that those enzymes control are key to defining the symptoms and available treatment approaches.
This article will discuss the different enzyme deficiencies, how they cause disease, and how they are treated.
Hinterhaus Productions / Getty Images
Role of Enzymes in Metabolism
Enzymes play an integral role in controlling metabolism within the body. The body is responsible for taking raw products from foods and turning them into useful products that support cellular and metabolic functions.
Chemical reactions within the body coordinate processes across all levels of the body, from controlling synaptic transmission in the brain to ensuring you have enough energy stored in your muscles for your next workout.
Enzymes help catalyze and speed up these chemical processes within the body. Most enzymes are small proteins that live within cells.Most enzymes have very specific functions in the body. Disruptions in even a single enzyme can lead to the development of metabolic diseases, also known as inborn errors of metabolism.
Since the body is responsible for processing many different molecules, each disorder is usually tied to a specific enzyme deficiency or the specific molecule that builds up within the body.
Types of Enzyme Deficiencies
There are many different types of enzyme deficiencies and understanding the chemistry can be a daunting task. Enzyme deficiencies are often classified based on the metabolic pathway that they disrupt or the products that accumulate in the body.
A few enzyme deficiency disorders are:
Symptoms of Metabolic Disorders
If your child is consistently unable to gain weight or appears to remain sick despite ongoing treatment, your healthcare provider may consider testing for metabolic disorders.
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. Every U.S. state performs newborn blood sample screening tests to identify and screen for metabolic disorders.Screening is conducted to identify the most common deficiencies and some rare deficiencies.
To better understand what enzyme deficiencies your state screens for, you can visit the department of health website for your state and review their newborn screening policies.
Treatment at a Glance
Treatment options for metabolic disorders are variable and depend on the underlying condition and process that are affected. In some cases, specific dietary changes are needed to reduce the effects of an enzyme disorder.
For example, ingalactosemia, avoiding milk products is necessary since the body cannot process the molecule galactose, which is found in milk.
In other cases, for example with lysosomal storage disorders (which affect the metabolism of some fats and carbohydrates), options such as enzyme replacement therapy can be used.
Treating an enzyme disorder often requires specialized medical care. Since many enzyme disorders impact multiple regions of the body, you often need a multidisciplinary team of specialists who can coordinate together and recommend a comprehensive treatment plan.
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 likeHunter’s syndromeand more.
Ongoing Research Developments
Tools such asCRISPR-CAS9have been used to treat blood disorders such assickle cell disease, and there is ongoing research into using these techniques to treat other conditions. Inherited metabolic disorders are optimal targets for these interventions, and work is underway to bring these treatments to the clinic.
Summary
Metabolic disorders are inherited conditions present at birth that impact the body’s ability to process nutrients and eliminate wastes. Determining the specific enzymes that are deficient and the processes they control is necessary to determine the best treatments.
Frequently Asked QuestionsEnzyme deficiencies are rare diseases.However, there are many different types of metabolic deficiencies and they can be missed. If you suspect your child is showing signs of an enzyme deficiency, reach out to a healthcare provider.Learn MoreNewborn Screening for Metabolic DisordersEnzyme 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.Learn MoreDigestive Enzymes
Enzyme deficiencies are rare diseases.However, there are many different types of metabolic deficiencies and they can be missed. If you suspect your child is showing signs of an enzyme deficiency, reach out to a healthcare provider.Learn MoreNewborn Screening for Metabolic Disorders
Enzyme deficiencies are rare diseases.However, there are many different types of metabolic deficiencies and they can be missed. If you suspect your child is showing signs of an enzyme deficiency, reach out to a healthcare provider.
Learn MoreNewborn Screening for Metabolic Disorders
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.Learn MoreDigestive Enzymes
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.
Learn MoreDigestive Enzymes
14 SourcesVerywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Agana M, Frueh J, Kamboj M, Patel DR, Kanungo S.Common metabolic disorder (inborn errors of metabolism) concerns in primary care practice.Ann Transl Med. 2018;6(24):469. doi:10.21037/atm.2018.12.34Martínez Cuesta S, Rahman SA, Furnham N, Thornton JM.The classification and evolution of enzyme function. Biophys J. 2015;109(6):1082-1086.Rahman SA, Cuesta SM, Furnham N, Holliday GL, Thornton JM.Ec-blast: a tool to automatically search and compare enzyme reactions.Nat Methods. 2014;11(2):171-174. doi:10.1038/nmeth.2803Makhlynets OV, Raymond EA, Korendovych IV.Design of allosterically regulated protein catalysts.Biochemistry. 2015;54(7):1444-1456. doi:10.1021/bi5015248Zaric BL, Obradovic M, Bajic V, Haidara MA, Jovanovic M, Isenovic ER.Homocysteine and hyperhomocysteinaemia. Curr Med Chem. 2019;26(16):2948-2961. doi:10.2174/0929867325666180313105949Genetic 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.Lee KN, Uhlmann W, Hipp L, Quinonez SC.The diagnosis of inborn errors of metabolism in previously undiagnosed adults referred for medical genetics evaluation.Mol Genet Metab Rep. 2020;25:100653. doi:10.1016/j.ymgmr.2020.100653Centers for Disease Control and Prevention.Newborn screening.Ferreira CR, van Karnebeek CDM.Inborn errors of metabolism.Handb Clin Neurol. 2019;162:449-481. doi:10.1016/b978-0-444-64029-1.00022-9Chen M, Zhang L, Quan S.Enzyme replacement therapy for infantile-onset Pompe disease. Cochrane Database Syst Rev. 2017;11:CD011539.D’Avanzo F, Rigon L, Zanetti A, Tomanin R.Mucopolysaccharidosis type II: one hundred years of research, diagnosis, and treatment.Int J Mol Sci. 2020;21(4):1258. doi:10.3390/ijms21041258Chaturvedi S, Singh AK, Keshari AK, Maity S, Sarkar S, Saha S.Human metabolic enzymes deficiency: a genetic mutation based approach.Scientifica (Cairo). 2016;2016:9828672. doi:10.1155/2016/9828672
14 Sources
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Agana M, Frueh J, Kamboj M, Patel DR, Kanungo S.Common metabolic disorder (inborn errors of metabolism) concerns in primary care practice.Ann Transl Med. 2018;6(24):469. doi:10.21037/atm.2018.12.34Martínez Cuesta S, Rahman SA, Furnham N, Thornton JM.The classification and evolution of enzyme function. Biophys J. 2015;109(6):1082-1086.Rahman SA, Cuesta SM, Furnham N, Holliday GL, Thornton JM.Ec-blast: a tool to automatically search and compare enzyme reactions.Nat Methods. 2014;11(2):171-174. doi:10.1038/nmeth.2803Makhlynets OV, Raymond EA, Korendovych IV.Design of allosterically regulated protein catalysts.Biochemistry. 2015;54(7):1444-1456. doi:10.1021/bi5015248Zaric BL, Obradovic M, Bajic V, Haidara MA, Jovanovic M, Isenovic ER.Homocysteine and hyperhomocysteinaemia. Curr Med Chem. 2019;26(16):2948-2961. doi:10.2174/0929867325666180313105949Genetic 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.Lee KN, Uhlmann W, Hipp L, Quinonez SC.The diagnosis of inborn errors of metabolism in previously undiagnosed adults referred for medical genetics evaluation.Mol Genet Metab Rep. 2020;25:100653. doi:10.1016/j.ymgmr.2020.100653Centers for Disease Control and Prevention.Newborn screening.Ferreira CR, van Karnebeek CDM.Inborn errors of metabolism.Handb Clin Neurol. 2019;162:449-481. doi:10.1016/b978-0-444-64029-1.00022-9Chen M, Zhang L, Quan S.Enzyme replacement therapy for infantile-onset Pompe disease. Cochrane Database Syst Rev. 2017;11:CD011539.D’Avanzo F, Rigon L, Zanetti A, Tomanin R.Mucopolysaccharidosis type II: one hundred years of research, diagnosis, and treatment.Int J Mol Sci. 2020;21(4):1258. doi:10.3390/ijms21041258Chaturvedi S, Singh AK, Keshari AK, Maity S, Sarkar S, Saha S.Human metabolic enzymes deficiency: a genetic mutation based approach.Scientifica (Cairo). 2016;2016:9828672. doi:10.1155/2016/9828672
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
Agana M, Frueh J, Kamboj M, Patel DR, Kanungo S.Common metabolic disorder (inborn errors of metabolism) concerns in primary care practice.Ann Transl Med. 2018;6(24):469. doi:10.21037/atm.2018.12.34Martínez Cuesta S, Rahman SA, Furnham N, Thornton JM.The classification and evolution of enzyme function. Biophys J. 2015;109(6):1082-1086.Rahman SA, Cuesta SM, Furnham N, Holliday GL, Thornton JM.Ec-blast: a tool to automatically search and compare enzyme reactions.Nat Methods. 2014;11(2):171-174. doi:10.1038/nmeth.2803Makhlynets OV, Raymond EA, Korendovych IV.Design of allosterically regulated protein catalysts.Biochemistry. 2015;54(7):1444-1456. doi:10.1021/bi5015248Zaric BL, Obradovic M, Bajic V, Haidara MA, Jovanovic M, Isenovic ER.Homocysteine and hyperhomocysteinaemia. Curr Med Chem. 2019;26(16):2948-2961. doi:10.2174/0929867325666180313105949Genetic 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.Lee KN, Uhlmann W, Hipp L, Quinonez SC.The diagnosis of inborn errors of metabolism in previously undiagnosed adults referred for medical genetics evaluation.Mol Genet Metab Rep. 2020;25:100653. doi:10.1016/j.ymgmr.2020.100653Centers for Disease Control and Prevention.Newborn screening.Ferreira CR, van Karnebeek CDM.Inborn errors of metabolism.Handb Clin Neurol. 2019;162:449-481. doi:10.1016/b978-0-444-64029-1.00022-9Chen M, Zhang L, Quan S.Enzyme replacement therapy for infantile-onset Pompe disease. Cochrane Database Syst Rev. 2017;11:CD011539.D’Avanzo F, Rigon L, Zanetti A, Tomanin R.Mucopolysaccharidosis type II: one hundred years of research, diagnosis, and treatment.Int J Mol Sci. 2020;21(4):1258. doi:10.3390/ijms21041258Chaturvedi S, Singh AK, Keshari AK, Maity S, Sarkar S, Saha S.Human metabolic enzymes deficiency: a genetic mutation based approach.Scientifica (Cairo). 2016;2016:9828672. doi:10.1155/2016/9828672
Agana M, Frueh J, Kamboj M, Patel DR, Kanungo S.Common metabolic disorder (inborn errors of metabolism) concerns in primary care practice.Ann Transl Med. 2018;6(24):469. doi:10.21037/atm.2018.12.34
Martínez Cuesta S, Rahman SA, Furnham N, Thornton JM.The classification and evolution of enzyme function. Biophys J. 2015;109(6):1082-1086.
Rahman SA, Cuesta SM, Furnham N, Holliday GL, Thornton JM.Ec-blast: a tool to automatically search and compare enzyme reactions.Nat Methods. 2014;11(2):171-174. doi:10.1038/nmeth.2803
Makhlynets OV, Raymond EA, Korendovych IV.Design of allosterically regulated protein catalysts.Biochemistry. 2015;54(7):1444-1456. doi:10.1021/bi5015248
Zaric BL, Obradovic M, Bajic V, Haidara MA, Jovanovic M, Isenovic ER.Homocysteine and hyperhomocysteinaemia. Curr Med Chem. 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.
Lee KN, Uhlmann W, Hipp L, Quinonez SC.The diagnosis of inborn errors of metabolism in previously undiagnosed adults referred for medical genetics evaluation.Mol Genet Metab Rep. 2020;25:100653. doi:10.1016/j.ymgmr.2020.100653
Centers for Disease Control and Prevention.Newborn screening.
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.
D’Avanzo F, Rigon L, Zanetti A, Tomanin R.Mucopolysaccharidosis type II: one hundred years of research, diagnosis, and treatment.Int J Mol Sci. 2020;21(4):1258. doi:10.3390/ijms21041258
Chaturvedi S, Singh AK, Keshari AK, Maity S, Sarkar S, Saha S.Human metabolic enzymes deficiency: a genetic mutation based approach.Scientifica (Cairo). 2016;2016:9828672. doi:10.1155/2016/9828672
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