Enzymes in your body help breakdown food molecules into fuel. There are approximately 75,000 different types of enzymes in the human body. An enzyme deficiency can occur when there is an absence of enzymes. This deficiency can cause your body to not be able to metabolize glucose through fructose to lactate. This means your body cannot get the fuel it needs from the food you are eating. Enzyme deficiencies are usually inherited defects from both parents. Both parents will have to be carriers for their child to get an enzyme deficiency. The parents usually have a deficiency themselves but may not show any signs or symptoms. There are hundreds of different enzyme deficiencies. Though there are thousands of different enzymes in your body only about 1/1000 babies born will have an enzyme deficiency.
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.
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.
Enzyme deficiencies are not curable. And there are limited t