About DNA Ligase IV Deficiency

Lig4 Syndrome, also known as dna ligase iv deficiency, is related to nijmegen breakage syndrome and telangiectasis. An important gene associated with Lig4 Syndrome is LIG4 (DNA Ligase 4), and among its related pathways/superpathways are Homology Directed Repair and DNA Damage. Affiliated tissues include skin, bone marrow and bone, and related phenotypes are global developmental delay and microcephaly

Major Symptoms of DNA Ligase IV Deficiency

The main symptoms of DNA ligase IV deficiency include: (1) persistent joint pain; (2) fatigue syndrome; (3) oral ulcers; (4) skin cyanosis; (5) Raynaud's phenomenon; (6) numbness of fingers and toes; ( 7) Oral mucosal inflammation.

Suitable Lifestyle for People with DNA Ligase IV Deficiency

For patients with DNA ligase IV deficiency, an appropriate lifestyle is to maintain regular eating habits, consume adequate protein, vitamins and minerals, and maintain a good work and rest schedule. In addition, patients can also perform appropriate exercises in daily life to promote blood circulation and maintain physical health. During the treatment period, patients should follow the doctor's advice and carry out relevant treatment and care under the doctor's guidance.

Other Diseases

Creatine Deficiency Syndrome due to AGAT Deficiency IgA Deficiency LRBA Deficiency Protein S Deficiency NGLY1 Deficiency Protein C Deficiency Vitamin A Deficiency Tetrahydrobiopterin Deficiency Prolidase Deficiency Vitamin B12 Deficiency

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