vitamin-k-semiquinone-radical and Intellectual-Disability

Biliary atresia (BA) is a rare disease, characterized by progressive and obliterative cholangiopathy, and is one of the major causes of secondary vitamin K deficiency in infancy. We describe 15 infants (10 female, 5 male) with BA, presenting with intracranial hemorrhage (ICH), including 10 subdural hemorrhages, 4 subarachnoid hemorrhages, 2 intraventricular hemorrhages, and 1 intraparenchymal hemorrhage. The age at onset of ICH ranged from 26 to 79 (mean 54.2) days. Eight patients underwent successful surgical evacuation of ICH, following administration of vitamin K. All 15 patients underwent Kasai portoenterostomy for BA 8-30 days after onset. During a mean follow-up period of 86.8 (range 2-352) months, 4 patients died of liver failure despite lack of neurological sequelae. Two patients underwent living-related donor and 1 patient living-unrelated donor liver transplantation. Only 2 patients suffered neurological signs and symptoms, including mental retardation and epilepsy, whereas 3 were noted to have temporary hemiparesis which recovered completely during the follow-up period. The possibility of BA should be considered in the treatment of ICH due to vitamin K deficiency, since it is reported to be one of the major causes of secondary vitamin K deficiency. Urgent surgical intervention for ICH can be performed successfully following sufficient administration of vitamin K or fresh frozen human plasma. Moreover, early performance of Kasai portoenterostomy is possible even for patients who have undergone craniotomy.

Topics: Biliary Atresia; Epilepsy; Female; Follow-Up Studies; Humans; Infant; Infant, Newborn; Intellectual Disability; Intracranial Hemorrhages; Liver Failure; Liver Transplantation; Male; Paresis; Vitamin K; Vitamin K Deficiency; Vitamins

Nutritional support is essential for patients with severe motor and intellectual disabilities (SMID) to ensure the smooth provision of medical care. These patients often require long-term tube feeding with enteral formulas, potentially leading to deficiencies in vitamins and trace elements. Additionally, frequent antibiotic use for infections often disrupts gut microbiota, inhibiting vitamin K2 production by intestinal bacteria. We assessed the serum protein induced by vitamin K absence or antagonists-II (PIVKA-II) and undercarboxylated osteocalcin (ucOC) levels to assess the vitamin K status in 20 patients with SMID (median age: 44.1 years, 11 men and 9 women) undergoing long-term tube feeding for durations ranging from 3 to 31 years. Thirteen (65%) and nine (45%) patients had elevated PIVKA-II (<40 mAU/mL) and serum ucOC levels (reference value < 4.50 ng/mL), respectively. Dietary vitamin K1 intake did not differ between patients with and without elevated PIVKA-II levels. Vitamin K2 supplementation for 3 months decreased serum PIVKA-II levels near those within the reference range. Approximately half of the patients with SMID on tube feeding had subclinical vitamin K deficiency. Further studies are needed to ascertain if long-term vitamin K2 supplementation effectively prevents vitamin K deficiency-induced hypercoagulation, osteoporosis, and vascular calcification in patients with SMID.

Topics: Adult; Biomarkers; Dietary Supplements; Enteral Nutrition; Female; Humans; Intellectual Disability; Male; Osteocalcin; Prothrombin; Vitamin K; Vitamin K 1; Vitamin K 2; Vitamin K Deficiency

We aimed to determine serum 25-hydroxyvitamin D (25(OH)D) and undercarboxylated osteocalcin (ucOC) levels in severe motor and intellectual disabilities (SMID) patients and their association with bone turnover biomarkers.. We assessed vitamin D and K levels as indicators of osteoporosis in institutionalized adults with SMID. From December 2019 to February 2020, 93 institutionalized patients (48 men, 45 women; median age, 49 years) underwent annual routine examinations. Serum ucOC, 25(OH)D, bone-specific alkaline phosphatase (BAP), and tartrate-resistant acid phosphatase A 5b (TRACP-5b) levels as bone formation and resorption markers and calcium and phosphorous levels were measured. Vitamin K deficiency was indirectly assessed based on ucOC levels.. Mean ucOC levels were higher than normal (i.e., vitamin K deficiency). Serum 25(OH)D levels were markedly diminished. Overall, 86% of patients had deficient 25(OH)D levels. These 25(OH)D-deficient patients had higher ucOC levels. Multiple linear regression analysis revealed an inverse correlation between 25(OH)D and ucOC levels. ucOC levels were significantly higher and 25(OH)D levels were significantly lower in tube feeding. TRACP-5b levels were significantly higher in elderly than in young women. BAP and TRACP-5b levels were normal in adults. No relationship existed between vitamin D and antiepileptic drug use.. Vitamin K and D co-deficiency was common in SMID patients. Vitamin K and D deficiencies were worse in tube-fed patients than in oral intake patients. SMID patients should undergo regular monitoring of vitamin D and K levels and supplementation of these vitamins.

Topics: Adult; Aged; Biomarkers; Bone Density; Female; Humans; Institutionalization; Intellectual Disability; Male; Middle Aged; Motor Activity; Motor Skills Disorders; Osteocalcin; Osteoporosis; Persons with Mental Disabilities; Vitamin D; Vitamin D Deficiency; Vitamin K; Vitamin K Deficiency; Vitamins

Topics: Blood Coagulation Disorders; Blood Coagulation Factors; Blood Proteins; Carbon-Carbon Ligases; Child, Preschool; Drug Resistance; Growth Disorders; Humans; Intellectual Disability; Ligases; Male; Vitamin K

Topics: Athetosis; Audiometry; Blindness; Brain; Brain Damage, Chronic; Cerebral Palsy; Child; Congenital Abnormalities; Deafness; Dwarfism; Exchange Transfusion, Whole Blood; Follow-Up Studies; Hemiplegia; Humans; Hyperbilirubinemia; Hyperopia; Infant; Infant, Newborn; Infant, Premature; Infant, Premature, Diseases; Intellectual Disability; Myopia; Neurology; Paraplegia; Seizures; Speech Disorders; Vitamin K

Topics: Child; Diet, Reducing; Glutamates; Humans; Intellectual Disability; Vitamin A; Vitamin K; Vitamins

Topics: Ascorbic Acid; Cerebral Palsy; Child; Disabled Children; Folic Acid; Gingivitis; Humans; Infant; Intellectual Disability; Vitamin A; Vitamin B Complex; Vitamin K; Vitamins

Topics: Adolescent; Diet, Reducing; Glutamates; Humans; Intellectual Disability; Vitamin A; Vitamin K; Vitamins