Vitamin B6 includes six interconvertible forms: pyridoxine, pyridoxamine, pyridoxal, and their respective 5'-phosphates. Pyridoxal 5'-phosphate is the key component of this group, serving as a coenzyme in enzyme systems involved in decarboxylation and transamination, and participating in the metabolism of amino acids, proteins, lipids, nucleic acids, and glycogen in the body. Deficiency can lead to spasms and peripheral neuropathy. Thus, vitamin B6 deficiency may cause abnormalities in generation and transformation as well as physiological functions. Vitamin B6 dependency syndrome is a congenital metabolic disorder caused by structural and functional defects in the enzyme kynureninase, with activity reduced to only 1% of normal. In such cases, the required intake of vitamin B6 is 5 to 10 times higher than that for normal children. Sometimes, excessive doses of vitamin B6 taken by the mother during pregnancy to alleviate morning sickness can result in the infant requiring higher doses of vitamin B6 after birth.

bubble_chart Clinical Manifestations

In infancy, the main symptoms of pyridoxine deficiency are generalized spasms, with other manifestations including peripheral neuritis, dermatitis, and anemia. If infants under 6 months of age are fed a diet deficient in vitamin B6 after birth, they may exhibit nervousness, increased excitability, and frequent generalized spasms, leading to depression, drowsiness, intellectual retardation, and loss of vibratory and positional senses. Gastrointestinal symptoms are also common. When treating subcutaneous node disease with isoniazid, peripheral nerve degeneration (more common in adults) and sexually transmitted diseases may occur, along with skin and mucous membrane inflammation, such as seborrheic and desquamative dermatitis, stomatitis, glossitis, and conjunctivitis.

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bubble_chart Auxiliary Examination

1. Tryptophan Test After administering tryptophan orally to the sick child, urine is collected to measure xanthine excretion. If the excretion is lower than normal, it is considered a positive reaction.
2. McHenry Test After administering alanine orally or via injection to the sick child, blood is drawn to measure urea concentration. If the urea concentration is significantly higher than normal, it is considered a positive reaction.

bubble_chart Diagnosis

If infants experience unexplained convulsions, anemia, or chronic diarrhea, and conditions such as hypocalcemia, hypoglycemia, hyponatremia, and infectious diseases have been ruled out, vitamin B6 deficiency or dependency should be considered. The cessation of seizures after an injection of 100mg vitamin B6 can serve as a diagnostic basis. A tryptophan load test can confirm the diagnosis, as follows: administer an oral dose of 50–100mg/kg tryptophan solution (with a total dose not exceeding 2g per administration). The child’s urine may then show a significant amount of xanthurenic acid, which is not present in normal individuals. However, this test may yield negative results in cases of vitamin B6 dependency. Additionally, serum and erythrocyte glutamic-oxaloacetic transaminase levels may be reduced. Electroencephalography (EEG) may reveal abnormal frequency and amplitude changes in brain wave patterns.

bubble_chart Treatment Measures

For spasms caused by pyridoxine deficiency, a single intramuscular injection of 100mg vitamin B6 can control it, followed by dietary adjustments. For vitamin B6-dependent diseases, daily intramuscular injections of 2-10mg or oral administration of 10-100mg are necessary until recovery. When treating certain diseases with vitamin B6 antagonists, oral B6 at approximately 2mg/kg/day is required.

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Diet should be balanced, and vitamin B6 should be added when consuming high-protein foods. For patients with subcutaneous nodules undergoing isoniazid treatment, neurological symptoms should be monitored. If abnormalities occur, the isoniazid dosage should be reduced, and it is best to supplement with vitamin B6 simultaneously. The normal daily requirement of vitamin B6 is 0.3–0.5 mg for infants and 0.5–2 mg for children.