Pyridoxine Deficiency Medical Malpractice Lawyer

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Failure to Diagnose Pyridoxine Deficiency Overview

Pyridoxine deficiency can be seen in all ages but is a syndrome in infants who lack vitamin B6, an important coenzyme in many essential metabolic pathways in humans. It is an unusual diagnosis in infants, even in developing countries. Even so, doctors should be aware of the signs and symptoms in children and adults and be prepared to replace the missing vitamin.

Symptoms in infancy generally present with irritability, cheilitis (inflammation of the lips), seizures, conjunctivitis, and neurological symptoms. It is more common in patients receiving isoniazid and it can lead to sideroblastic anemia because it turns out that pyridoxine is a required cofactor in the production of hemoglobin.

There is a condition called pyridoxine-dependent epilepsy that causes seizures shortly after birth. The seizures are speculated to be due to pyridoxine deficiency because of abnormalities in the ratio of glutamic acid to GABA. It is believed to be associated with the ALDH71 GENE. Irritability is seen along with other neurologic symptoms such as confusion. Anemia is a documented symptom.

The main cause of this type of deficiency is a lack of pyridoxine in the diet. Another cause of vitamin B6 deficiency is the use of the tuberculosis drug called isoniazid. For this reason, vitamin B6 is given while the drug is being used.

When people or animals are suffering from pyridoxine deficiency, it impairs the decarboxylation of glutamic acid in making GABA (a neurotransmitter) and the transamination of glutamic acid in the making of alpha-ketoglutaric acid. The neurological symptoms are felt to be due to a lessened affinity of pyridoxine for the apoenzyme, which can only be made up for by increasing the levels of the enzyme.

Pyridoxine deficiency is uncommon in children and usually happens when a batch of infant formula is passed on to the public that lacks in pyridoxine. There is a positive diagnostic test for pyridoxine deficient that measures erythrocyte levels of aspartate aminotransferase and transketolase in the serum.

The treatment of B6 deficiency involves replacing the missing vitamin. Stay clear of penicillamine or hydrazides like isoniazid because they tend to cause pyridoxine deficiency.

In adults with pyridoxine deficiency, risk factors include advanced age, severe malnutrition, sickle cell disease, inflammatory conditions, rheumatoid arthritis or prolonged hospitalization. People with celiac disease, hepatitis, hepatocellular carcinoma, chronic renal failure, kidney transplant or a catabolic state have a high incidence of pyridoxine deficiencies. People who have had metabolic procedures like hemodialysis, peritoneal dialysis or phototherapy for high bilirubin are at a greater incidence of B6 deficiency.

Medications like cycloserine, hydralazine, isoniazid, penillamine and pyrazinamide can cause secondary vitamin B6 disease. Alcoholics who smoke excessively and are severely malnourished put themselves at risk for pyridoxine deficiency.

There are several symptoms and syndromes that are related to pyridoxine deficiency. These include weakness, dizziness, inflammation, atherosclerosis, early MI, early stroke, recurrent venous embolism, fatigue from anemia, bilateral extremity numbness, bilateral distal paresthesias, bilateral limb weakness, CNS depression, irritability, confusion, seizures, white matter lesions, anorexia and vomiting.

In adulthood, pyridoxine deficiency is not as rare as it is in infants. It is usually caused by having little in the way of oral intake and being severely malnourished. Alcohol use and a great deal of tobacco abuse also play a role in who gets pyridoxine deficiency and who doesn’t.

The only feasible treatment of pyridoxine deficiency is to replace the body with pyridoxine. It can be given as a single vitamin or as part of a vitamin B complex vitamin given once per day.

Even though it is an uncommon disease, doctors should be aware of the symptoms in adults and infants so as to be able to provide prompt treatment.

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The author of the substantive medical writing on this website is Dr. Christine Traxler MD whose biography can be read here