Biotin Patient Essay

Submitted By messiah5039
Words: 624
Pages: 3
Open Document
Biotin responsive seizures and encephalopathy due to biotinidase deficiency.

Biotinidase deficiency is a disorder of multiple carboxylase deficiency with an autosomal recessive mode of inheritance and was first described by Wolf and colleagues in 1983 The reported incidence in various neonatal screening programs worldwide is 1:60,000 live births. Biotin, a vitamin B complex is necessary to activate the carboxylase enzymes system. The carboxylase enzymes are essential for the metabolism of amino acids, carbohydrate and fatty acids. Biotin is normally required in a very small quantity as most of it is re-cycled by biotinidase enzyme. Biotinidase deficiency results in the depletion of body biotin stores, thus leading to the failure of carboxylase enzymes causing severe metabolic consequences. Biotin deficiency is characterized by acute metabolic encephalopathy, neuro-developmental delay, anti-epileptic drug resistant seizure disorder, muscular hypotonia, alopecia and skin rash.

A boy aged three months presented with history of recurrent seizures since 35 days of age. He used to have five to six convulsive seizures a day, each lasting for five minutes. He was extremely lethargic and sleepy most of the time with poor cry, sucking, and motor activity. Three of his siblings had died with similar illness. Seizures were uncontrolled with phenobabitone and clonazepam. He was tried on pyridoxine without any effect. On examination, there were no dysmorphic features or neuro-cutaneous markers. The scalp hair was very thin and scanty and the eye brows and eye lashes were virtually absent. He also had nappy dermatitis. Neurological examination revealed a lethargic child with dull and expressionless face. There was no eye contact and he could not track the moving objects. There was generalized hypotonia with marked head lag. The neonatal reflexes were very sluggish. The deep tendon reflexes were exaggerated. Rest of the systemic examination was unremarkable. Investigations revealed mildly elevated ammonia 127 micromole/L (normal 16 – 60 micromole/L) and lactate 3.9 micromole/L (normal 0.5 – 2.0 micromole/L). Blood sugar, renal, hepatic and bone profile were normal and no keto-acidosis. EEG revealed burst suppression pattern and asynchrony, multi-focal spike discharges consisting with early infantile encephalopathy. Magnetic resonance imaging (MRI) of brain revealed diffuse white matter changes with marked cortical atrophy. Tandem mass spectrometry revealed high C5 hydroxycarnitine levels. The urine organic acid profile showed marked increase of 3-hydroxyisovarelate,
Show More

Related Documents: Biotin Patient Essay

Argumentative Essay On Cancer Therapy

count and a 66% decrease in platelet count compared with PRIT that had a 34% decrease in white blood count and a 39% decrease in platelet count.” Another similar study was conducted of 26 and 42 patients receiving Pretargeted radioimmunotherapy. They suffered with advanced Medullary thyroid carcinoma. 15 patients were receiving radioimmunotherapy using the anti-CEA MN-14 antibody. “Injected activities for RIT varied…

Words 1674 - Pages 7

Cosmetology Research Paper

is mostly consumed by eating meat based products. Sources for this vitamin include shellfish, eggs, dairy products, and some breakfast cereals. Vitamin B12 is one of the vitamins that actually stays in your body. Many doctors tell their patients to take biotin supplements, this helps you process energy and transport carbon dioxide from your bodies cells. The best vitamins for your skin includes vitamin D which is thought to help with psoriasis, a skin disease marked by red, itchy, scaly patches…

Words 1013 - Pages 5

Diverticulitis Case Study Essay

abdominal and causes diverticulitis so sepsis can be a cause and a complication of diverticulitis. (Hotchkiss, Monneret, & Payen, 2013) Case Study This case study was conducted from November 8th, 2017 to December 8th, 2017. The focus of this study is patient WJ, who…

Words 1323 - Pages 6

Essay on Clinical Exam Final Study Guide

Essential amino acids The only way to obtain them is by eating them. • Water soluble vitamins Vitamins that are dissolved in water and absorbed in the small intestine. Thiamine B1, Riboflavin B2, Niacin B3, Pyridoxine B6, Folate, Cobalamin B12, Biotin, Choline, and C. • Function of Vitamins A, K, B12, A-Necessary for sight! Maintain skin and mucous membranes, vision, bone growth, immune system and normal reproduction. K-Co-factor in synthesis of blood clotting factors including prothrombin…

Words 1121 - Pages 5

Hair Loss Essay

Women Hair Loss Sincerae Mosley Cornerstone University Abstract Women Hair loss is a medical problem and clients need to know the medical disease and conditions that cause hair loss. Cosmetic solution should be use after clients had a medical diagnosis. An example of a Diagnostic techniques is “The hair pull test, hand-held epiluminescent microscopy and global photography are valuable in the diagnosis and management of this condition. The hair pull test is an examination technique that…

Words 2322 - Pages 10

Pathogram: Chronic Respiratory Failure Essay

| |Brief review of the patient |Medical Diagnoses: |Therapeutic Modalities | |Age: 86 years old |Admitting Diagnosis: |-Continuous vital…

Words 7636 - Pages 31

HSC Diabetes Insulin Resistance Essay

deemed unethical to deny exercise and good nutrition to the control group and the study was halted [15]. As a result of this type of data, we no longer take lifestyle for granted [16]. In the 27-center study cited here, researchers found that when patients at risk for diabetes lost just eight pounds through regular exercise, the incidence of type 2 diabetes was reduced by 58%. RISK…

Words 8003 - Pages 33

Nutrition Tests Essay

Todd's Case Study What is Todd's Body Mass Index (BMI)? 22 2. According to the BMI chart in Chapter 8 what category does Todd's BMI fall in? Healthy 3. Which food item was the highest source of Protein per serving? 1 Cup of Soymilk 4. Which food had the highest source of Carbohydrates? Whole-wheat Pita 5. Which food provided the best source of fiber? 8 oz. Vegan Chili 6. What advantage is it to have a diet high in soluble fiber? It helps…

Words 4512 - Pages 19

Sexually Transmitted Diseases Essay

Science For Living Notes (Compiled) Table of Contents Unit 1 Measurement 5-10 Unit 2 Matter 11-48 Unit 3 Basic materials for maintaining life Air 49-54 Water 55-68 Food 69-71 Other biomolecules of life 72-76 Unit 4 Energy in the Community Electricity 77-78 Heat 78-81 Light 82-91 Sound 92 Simple Machines 93-99 Unit 5 The Physical Environment Weather and Climate 100-113 Soils 114-128…

Words 35677 - Pages 143