Symptoms

Since there are so many different types of deficiencies it is hard to say what an enzyme deficiency looks like.  Symptoms can include any of these following symptoms or as few as just one or two of them. You may experience being lethargic, or having a poor appetite.  Others include abdominal pain, vomiting, weight loss, and in babies failure to thrive. More symptoms include jaundice, developmental delay, seizures, or even a coma.  Also symptoms can be odorous urine, breath, saliva, or sweat. Symptoms can come on suddenly or they can progress slowly. 

Diagnosis

Usually enzyme deficiencies are diagnosed at birth but they aren’t always if symptoms aren’t present.  There are some types of deficiencies that take years to develop. Flare ups of symptoms can occur by foods, medications, dehydration or minor illnesses.  You may have a case of strep throat that then leads to symptoms of your enzyme deficiency to become more present then they ever have been. At birth if there seem to be symptoms present if the parents know they have enzyme deficiencies there will be DNA tests done to confirm. 

Treatment

Enzyme deficiencies are not curable.  And there are limited treatments. They can be manageable though so you can have as close to a normal life as possible.  The main thing treatment focuses on is to Reduce, Replace, and Remove. Reduce the foods that can’t be metabolized. Replace the enzymes that are missing.  Remove toxic products that accumulate. The way you can Reduce is by being on a special diet. Replace with enzyme replacement treatment. Remove by detoxifying the blood.  

Types

There are lots of different enzyme deficiencies.  Hundreds of deficiencies. Here are some of the most common deficiencies.

MPS (mucopolysaccaridoses) is when there are complex sugars that accumulate in the cells.  This deficiency is usually present at birth but in some rare cases it isn’t and takes a few years to show symptoms.  About 1/25,000 babies born in the United States will have some form of the enzyme deficiency. This deficiency can damage the heart, bones, joints, respiratory system or central nervous system. 

LSD (lysosomal storage disorder) is when you lack the enzymes that recycle cellular waste.  Babies born with this usually die in infancy or early childhood. 1/5000 babies born have this deficiency.  Each form of this deficiency is progressive. It can cause lots of different symptoms such as developmental disabilities, clouded corneas, short stature, stiff joints, incontinence, speech or hearing impairment, chronic runny nose, hernias, heart disease, hyperactivity, depression, pain, and shortened life span. 

NP (Nieman-Pick Disease) is also known as a lipid storage disorder.  This is when you are missing the enzymes that cannot metabolize lipids.  This will cause harmful quantities of lipids to accumulate in the spleen, liver, lungs, bone marrow, and brain.  Children who have this present at birth won’t last longer than 18 months of age. Symptoms can include lack of motor coordination, brain degeneration, learning problems, loss of muscle tone, increased sensitivity to touch, spasticity, feeding and swallowing difficulties, slurred speech, or an enlarged liver or spleen.  

Nowadays at birth in all fifty states PKU (phenylketonuria) is tested in all 50 states.  This causes high levels of phenylalanine in the blood. Phenylalanine is an amino acid that is found in some foods that is used for your body to make proteins.  If there are high levels of Phenylalanine in the blood it can cause intellectual disabilities if not treated right away. 

Conclusion 

If you believe you have an enzyme deficiency you will need to speak with your healthcare provider.  Lots of tests may be done before they come to the conclusion of enzyme deficiency. Mostly because it’s easier to eliminate other diseases or disorders before coming to the conclusion.  Once you have been diagnosed, your doctor will put into effect the Reduce, Replace, and Remove treatments that work for you.