LCHAD

LCHAD : long-chain 3- hydroxyacyl-coenzyme A dehydrogenase ) deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during periods without food ( fasting ). Normally through a process called fatty acid oxidation, several enzymes work in a step-wise fashion to brakdown ( metabolize ) fats and convert them to energy. People with LCHAD have inadequate levels of an enzyme required for a step that metabolizes a group of fats called long-chain fatty acids.
Catalyzes the third step of mitochondrial oxidation of long chain fatty acids, converting long chain 3-hydroxyacyl0-CoA enters into the corresponding 3-ketoacyl-CoA esters. The LCHAD enzyme is part of the mitochondrial trifunctional protein ( MTP), which also narbors long-chain enoy-CoA hydratase and the long chain thiolase activity.
Diagnosis of LCHAD deficiency is suggested by demonstrating increased secretion of 3-hydroxydicarboxylic acids in urine by gas chromatography mass spectrometry, or by demonstrating accumulation of 3-hydroxyacyl carnitines as measured by tandem-mass-spectrometry in plasma. Confirmation of the diagnosis is possible by measuring LCHAD activity in lymphocytes, fibroblasts, muscle or liver biopsies, and by mutational analysis.

MEDICAL CARE

• If the patient present with acute hypoketotic hypoglycemia encephalophaty, the main goal is to secure sufficient energy intake by infusions of iv glucose.
• The management of affected patients is directed at the avoidance of fasting. Most patients also are provided with uncooked cornstarch and medium chain triglycerida ( MCT ) oil supplementation to further decrease exposure to fasting. Consider carnitine supplementation if any hypocarnitinemia is present, however, carnitine should not be used during acute decompensation.

LAB STUDIES

- Blood sugar and urine ketones

The hallmark biochemical feature is acute hypoketotic hypoglycemia. Collect urine ketones in the acute episode.

- Creatinine phosphokinase, ammonia, uric acid, liver enzymes, lactic acid.Durimg acute episodes, elevated levels of creatinine phosphokinase are observed.Hyperammonemia maybe observed in acute episodes. Elevation of liver trans inase also is observed. A high incidence of lactic acidemia accompanies the metabolic decompensation or acute episode.

- Plasma carnitine levels and acylcarnitine profile.Plasma carnitine levels are low

VERY LONG - CHAIN ACYL - COA DEHIDROGENASE DEFICIENCY ( VLCADD )

LCHAD: Long chain 3 -hydroxy acyl-co.euzyme A dehydrogenase deficiency.

Classification : Fatty acid oxidation disorder

Genetic information:

Inheritance : Autosomal recessive

Autosomal recessive : a genetic condition that appears only in individuals who have received two copies of an autosomal gene, one copy from each parent. The gene is on an autosome, a non sex chromosome. The parents are carries who have only one copy of the gene and do not exhibit the trait because the gene is recessive to its normal counterpart gene.If both parents are carrier, there is a 25% chance of the child inheriting both normal genes.

Population incidence : Unknow

Ethnic Incidence : no known population at increased risk.

DISEASE INFORMATION

Symptom onset : Variable depending on the phenotype, ranging from neonatal to adult onset.

Symptoms : Approximately 50 percent present as infants with nonketotic hypoglycemia, hepatic dysfunction andcardiomyopathy, and this has been generally lethal.

Thirty-tree percent present in late infancy or child hood with episodes of nonketotic hypoglycemia and hepatic dysfunction but no cardiac involvement. There is generally a mildly increased ammonia, lactate, and creatinine kinase.

Approximately 20 percent present as adolescents or adults with symptoms limited to muscle fatique, rhabdomyolysis and myoglobinuria triggered bye exercise or fasting. There is no hypoglycemia or cardiac involvement.

PRESENTING SIGNS AND SYMPTOMS OF VLCADD :

• Low blood sugar ( hypoglycemia ),lack of energy ( lethargy ), muscle weakness.
• neurological examination:
• 1.The acute episode of hypoketotic hypoglycemic encephalopathy may begin with a seizure.
• 2.Most patient are hypotonic, at least in infancy
• 3.Examination may reveal profound weakness, decreased movements, and a frog-leg position.
• Cardiac : examination of the heart may reveal cardiomegaly, poor heart sounds and gallop rhythm.
• Abdomen: 1. most patient have hepatomegaly. 2. Jaundice may develop in infancy along with elevation of the transaminase.
• Ophthalmological exam :
• 1. In the youngest patients, fundus may be pale. Thereafter, aggregation og pigment has been detected in the posterior, aggregation of pigment has been detected in the posterior pole and macular region.
• 2.progressive atrophy of the retinal pigment epithelium, choroid, neural retina and retina vessels follow initial pigment abnormalities. This may lead to a completely bare scelera in the central fundus.
• posterior staphylomas and delicate lens opacities also maybe observed.

Physical findings : No particular dysmorphims. Cardiomyopathy in infants.

Treatment : The mainstay of traetmen is a high carbohidrate, low fat diet supplemented with MCT oil and strict avoidance of fasting and prolonged exercised. Aggressive support with calories and fluid is needed for intercurrent illness. Carnitine use is controversial.

Natural history without treatment : Patients with the infantile form of the disease usually die in the first year of life. The late infantile hepatic presentation children will die without treatment. The adult form can progress to renal failure if the myoglubinuria is not addressed.

Natural history with treatment : The infantile form is generally fatal, although there are reports of survivors and complete resolution of cardiomyopathy with early diagnosis and treatment. The later onset patients can survive if treated appropriately. In general the outcome is believed to be good for patents who are identified oresymptomatically.

METABOLIC INFORMATION

Missing enzyme & location : defect in palmitoyl - COA dehydrogenase. Responsible for reducing Acyl - COA's of chain lengths C14 - C20. This is the first and rate - limiting step in the beta- oxidation of fatty acids by the mitochondria for energy metabolism.

MS/MS profile : C14:1 ( tetradecenoyl Carnitine )- elevated

C14 : 1 / C12 :1 ratio - elevated.

Prenatal testing : prenatal testing : prenatal diagnosis is possible in families with a previously affected child.

Miscellasneous information : in the mouse model , there have been arrythmias and death even in older mice.Confirmatory and diagnostic metabolic testing may be normal even in patiens with a known VLCAD mutation.

ANXIETY

Anxiety is a common and normal response to a new ans stressful situation such as caring for an ill person. When people are ill and hospitalized,they may feel afraid,nervous,and overwhelmed. Many experience anxiety during their ilness, caused bye worries of medical procedures, fear of being aburden, pain and discomfort, or even as a result of terminal ilness.

Family and friends caring for an ill person also become anxious. The caregivers anxiety may be becaused by worrying about a loved one's illness and their ability to cope with it and poor communication between the person and the caregiver. At times, the anxiety of the person with terminal ilness can even be a source of the caregiver'a anxiety.

There are two distinct forms of anxiety:

• Acute anxiety ; people with acute anxiety often suffer short - term episodes of restlessness and are overactive. In more extreme cases, this individuals experience panic attacks accompanied bye breathing problems.
• Choronic anxiety; people with chronic anxiety experience long term problems, such as fatique, insomnia, trouble concentrating and problems such as fatique, insomnia, trouble concentrating and problems witj decision-making.

Signs and symptons of anxiety may have the folloeing physical signs or symptoms af anxiety:

• Difficulty solving problems and concentrating
• Feeling excitable
• Increases muscle tension (appears tense)
• Trembling and shaking
• Headaches
• getting angry
• Shortness of breath
• Rapidirregular heartbeat
• Dizziness
• Irritability
• Excessive worrying
• Fatique
• Insomnia
• Dry mouth
• Sweating
• Diarrhea
• frequent Urination

If more than one of the above symptoms exist, call or see a doctoror other member of the health care team. They will evaluate the possible causes of anxiety and make recommendations for treatmen orreferral.

Treatmen

Treatmen for anxiety may vary, depending on the underlying cause and individula. Your health care professional may recommend psychoterapy or a combination of both.Although teratment does not cure, it proves effective in relieving anxiety symptomps.

Medication

There are several types of medication available for traetment of anxiety. They include :

• Benzodiazepines : these have been the standard treatment for anxiety for several years. Although effective, they have side effects, including risk dependency and abuse. Examples of benzodiazepines include Xanax, Klonipin, Valium, Ativan and Paxipam.
• Anti-depressants: Specifically, the SSRIs have increasingly been prescribed as anti-anxiety medication. They are effective and less habit forming than the benzodiazepines. Side effects include weight gain and sexual dysfunction. Example include Prozac, Zoloft, Paxil and Luvox.
• Beta-blockers: including Inderal and Tenormin block the nerve that stimulates the heart to beat faster.
• azapirones: Buspirone ( Buspar ) is used to great generalized anxiety. Common side effects include dizziness, drowsiness and nausea.

if one medication is not effective, your doctor may prescribe another or combinations.

You can also help bye :

• determine what thoughts are causing anxiety,Identify triggers
• Talking to some one who has been through the situation causing anxiety.
• Increase pleasant, distracting activities.
• Increase companionship and time spent with friends and family who care.
• relieve physicallsymptoms such as pain or other side effects.
• participate in relaxation techniques such as medication, muscle therapy, mild exercise, etc.

If you are experiencing symptoms of anxiety, you should talk to someone who can help a friend. someone who has experienced anxiety before, a nurse, phychiatrist, psychologist or a social worker. They are well trained and will be glad to hear and discuss about your feelings.

CARDIO PULMONARY RESUSCITATION

Cardio pulmonary resuscitation ( CPR ) is a technique of basic life support for the purpose of oxygenating the brain and heart until appropriate, definitive medical treatment can restore
normal heart and ventillatory action. Respiratory arrest has been associated with a better survival than cardiac arrest. Once cardiac arrest occur, the outcome of resuscitative effort is poor.Complete apnea signals need rapid and vigorus action to prevent cardiac arrest. In such situations, nurse must be prepared to initiate action immediately.Neurologically intact survival has occured only in those patients who received immediate resuscitation and respond promptly.Cardio pulmonary resuscitation is an emergency procedure that consists of artificial respiration and external cardiac massage, instituted after cardiopulmonary arrest.

The basic principles of life support center on the ABC of CPR :
1.Airway
2.Breathing
3.Circulation

Cardinal symptoms of cardiact arrest are the following :
1. Sudden loss of consciousness
2.Absence of carotid / femoral pulses
3.Absence of audible heart sounds
4.Convulsions
5.Dilation of pupil with gray or ash color


FAST FACT
For effective cardio pulmonary resuscitation victim is placed on the back i.e, in the supine position on a firm, flat, hard surface, supporting head and neck. With loss of consciousness the tounge wich is attached to the lower jaw, relaxes and falls back, obstructing the air way.To open the air way head is positioned with either head tilt/ chin-lift or jaw thrust maneuver.

When achild requires CPR,consider the size, not just the age. For example,youg children who can be palced on the rescue's thigh should receive infant CPR. Since many older children with severe chronic ilness or disability remain small in size. So pediatric CPR may be appropriate.After the initial two breaths, the pulse is pulpated to determine the presence of heart beat. The carotid is the most central and accessible artery in children over 1 year of age.However the very short and often fat neck of the infant renders the carotid pulse difficult to palpate. Therefore it is preferable to use the brachial pulse in the infant, located on the inner side of the upper arm.Absence of a carotid or brachial pulse is considered sufficient indication to begin external cardiac massage.

External chest compressions consist of serial, rhythmic compressions of the chest to maintain circulation to vital organs untill the child achieves spontaneous vital signs or ALS can be provided.Chest compressions are always interspersed with ventilation of the lungs. The volume of air in an infant's lung is small, and the air passages are considerably smaller,with resistance to flow. Therefore smlal puffs of air are delivered.It is essential to prevent over-extension of the head of small infants, since this tends to close the flexible trachea.

The patient who has been resuscitated is at risk for another episode of cardiac arrest.If the victim is breathing or resumes effective breathing after emergency interventions,placed in the recovery position .but if rescue breathing or RPR required victim should not be placed in the recovery position.