Carnitine Deficiency

Carnitine Deficiency questions and answers

Learn About Treatment of Carnitine Deficiency Treatment Options.

Q: How should Carnitine Deficiency be treated in infants?
My cousin's daughter has been diagnosed with Acid Reflux disease, some muscle diseases that the doctors don't know what they are yet and Carnitine Deficiency. She's on some meds for these problems. She has a Mic button in her stomach to eat with because she doesn't eat right. She throws up a lot and it comes out of her mic button as well. Can anyone tell me what the normal treatment for carnitine deficiency is??

A: I copy this abstract for you, from the UCSF, Children's Hospital Central California, 9300 Valley Children's Place, Madera, CA 93638, USA Abstract Summary: Carnitine deficiency is a secondary complication of many inborn errors of metabolism. Pharmacological treatment with carnitine not only corrects the deficiency, it facilitates removal of accumulating toxic acyl intermediates and the generation of mitochondrial free coenzyme A (CoA). The United States Food and Drug Administration (US FDA) approved the use of carnitine for the treatment of inborn errors of metabolism in 1992. This approval was based on retrospective chart analysis of 90 patients, with 18 in the untreated cohort and 72 in the treated cohort. Efficacy was evaluated on the basis of clinical and biochemical findings. Compelling data included increased excretion of disease-specific acylcarnitine derivatives in a dose–response relationship, decreased levels of metabolites in the blood, and improved clinical status with decreased hospitalization frequency, improved growth and significantly lower mortality rates as compared to historical controls. Complications of carnitine treatment were few, with gastrointestinal disturbances and odour being the most frequent. No laboratory or clinical safety issues were identified. Intravenous carnitine preparations were also approved for treatment of secondary carnitine deficiency. Since only 25% of enteral carnitine is absorbed and gastrointestinal tolerance of high doses is poor, parenteral carnitine treatment is an appealing alternative therapeutic approach. In 7 patients treated long term with high-dose weekly to daily venous boluses of parenteral carnitine through a subcutaneous venous port, benefits included decreased frequency of decompensations, improved growth, improved muscle strength and decreased reliance on medical foods with liberalization of protein intake. Port infections were the most troubling complication. Theoretical concerns continue to be voiced that carnitine might result in fatal arrhythmias in patients with long-chain fat metabolism defects. No published clinical studies substantiate these concerns. Carnitine treatment of inborn errors of metabolism is a safe and integral part of the treatment regime for these disorders. (This revised version was published online in August 2006 with corrections to the Cover Date.) Hope this helps matador 89

Q: What is Carnitine Deficiency?
I would like to know what is Carnitine Deficiency?

A: Carnitine Deficiency Syndromes http://www.webmd.com/hw/health_guide_atoz/nord60.asp this article is more indepth http://www.emedicine.com/ped/topic321.htm Plz let me know if you need further help in searching this syndrome.

Q: is there a good support group for people who have primary carnitine deficiency?
i was just told i have this rare muscle desease and i would like to talk with others who have the same. thank you but no this is not fabry deases. it was a confimed carnitine def.

A: Is this Fabry Disease ? Anyway here are some links to support groups for carnitine deficiency support. Hope they help.

Q: Is there a difference between "carnitine deficiency" and an "SCADD" (short chain deficiency)?
My son died 2 hours after an induced labor (37 weeks) of "metabollic acidosis" coupled with severe anemia. I was on two epilepsy meds, depakote (which depletes carnitine levels -- mine were LOW but they didn't know this till later) and zonegran (which killed my appetite, resulting in fasting which is apparently horrible if you're already low on carnitine). They found he was carnitine deficient and/or had an SCADD -- it didn't occur to me until now -- are these two separate things? Can the SCADD be a result of a carnitine deficiency linked to the depakote? (They have no idea what caused the anemia, other than possibly bleeding into the placenta after the cord was cut.) I am still puzzling over this...thanks!

A: According to nih.gov: "Primary carnitine deficiency is a condition that prevents the body from using fats for energy, particularly during periods without food (fasting)." I know this is for primary cases, and you're suggesting this case was medication induced, but that was all I could find :(. SCADD on the other hand is discussed more as a autosomal recessive genetic disorder. So each time you have a child, there may be a 25% chance of having it again in that child. The children tend to get hypoglycemic which can result in the metabolic acidsosis. I wish I knew more. It sounds like you are worried that your medications may have somehow worsened all this and I'm very sorry for your loss. Personally as an MD student, it does not sound like your medications should have contributed much. If they did, then it was your doctor's responsibility to take you off the meds and maybe on a safer alternative. I hope you feel better. I'll leave the links for you in case you are interested in reading on it.

Q: anyone heard of Carnitine deficiency?
my friend was told her baby girl has got this just over a month ago but as it is very uncommon shes not really been given any information she is 9 months old and suffers with fits but they dont no what cause them as a result she is now blind with a little brain damge (they wont no how much till she is older) she was a normal healty little girl before all this so anyone with any information at all with what to expect or anything at all answers much appeciated thanks in advanced

A: http://en.wikipedia.org/wiki/Primary_carnitine_deficiency

Q: Is anyone familiar with a condition called Phosphorlase B Kinase Deficiency?
I was diagnosed with this condition along with Metabolic Myopathy with a Carnitine Deficiency. This was found when they did a muscle biopsy on me to try to find answers for me and my son who has the same health problems that I have. We have flare-ups where we aren't able to do anything for days at a time, nothing...then we have our "good days" when we can actually function. Doctors don't know too much about this, still trying to find out. I really want answers to try to help my son. He has to be home schooled because during his flare-ups he would miss too much school. And he really wants to be in school, he would actually be in the high school. It is so heart-breaking watching him go through this. It is bad enough that I have to live with it, but devastating to see him like this. Any help, any at all, is greatly appreciated.

A: I found out what it is in simple terms- phosphorylase b kinase deficiency /phos·phor·y·lase b ki·nase de·fi·cien·cy/ an X-linked disorder of glycogen storage due to deficiency of the enzyme in the liver, characterized in affected males by hepatomegaly, occasional fasting hypoglycemia, and some growth stunt. Dorland's Medical Dictionary for Health Consumers. © 2007 by Saunders, an imprint of Elsevier, Inc. All rights reserved. I have tried looking for ore information on this condiction but this was all I can come up with.Is there any organizations that support the cause of this. Smethimes doctors offices have support groups and phamplets laying around that way you can find out more about the condiction. Sorry this was I can come up with.

Q: is there a connection mcad deficiency and uti's?
my 3yr old daughter was diagnosed with mcad deficiency and has been taking a carnitine supplement to help her kidneys get rid of toxins is there a connection between low carnitine levels and uti's?

A: MCAD and the carnitine has nothing to do with uti's. MCAD is a metabolic disorder and the carnitine is a naturally accuring enzyme that your daughter can't make. The toxins are also building up in the liver so I dont think this would cause and uti's. My son was diagnosed when he was 5 days old in october 2006. He is now a very happy, healthy and active 19 month old.

Q: Have any long-range side effects ( good or bad) been mapped for acetyl-l carnitine?
I have had acetyl-l-carnitine recommended as a memory aid, and am wondering if it is safe to use if I have not experienced any of the deficiencies described as an indication of the product. In other words, can one be harmed by taking it?

A: Apparently acetyl-l-carnitine has some small possible minor side effects as well as some benefits Side Effects 1. Increase in blood pressure 2. Faster heartbeat 3. Fever and possible rash 4. Large amounts can lead to diarrhoea 5. Can cause nausea/vomiting, headache, bladder irritation or infection, unusual body odour, stuffy nose 6. Possibility of restlessness and difficulty sleeping due to the nature of the drug. Benefits 1. It has a role in energy production and therefore a role in weight control 2. It can enhance cellular energy in the brain 3. It can alleviate the effects of depression 4. Can help to prevent cataracts 5. Can help those in a physically demanding job/hobby 6. Some studies have found evidence that acetyl-l-carnitine, might be helpful in Alzheimer's disease 7. Uncontrolled studies suggest that L-carnitine or acetyl-L-carnitine may be helpful for improving sperm function. 8. Weak evidence also suggests that carnitine may be helpful for decreasing the toxicity of AZT (a drug used to treat AIDS). Safety Issues L-carnitine in its three forms appears to be quite safe. However, individuals with low or borderline-low thyroid levels should avoid carnitine because it might impair the action of thyroid hormone. Individuals on dialysis should not receive this (or any other supplement) without a physician's supervision. The maximum safe dosages for young children, pregnant or nursing women, or those with severe liver or kidney disease have not been established. Interaction Drug Side Effects You Should Know About If you are taking; • Antiseizure medications, particularly valproic acid (Depakote, Depakene) but also phenytoin (Dilantin): You may need extra carnitine. • Thyroid medication: Do not take carnitine except under a physician's supervision Like any drug, the possible side effects will affect people differently - due to metabolic factors - speak to your doctor for more information

Q: Has anyone had a someone with muscular dystrophy.?
My husband has carnitine deficiency and is doing very badly. Has anyone gone through this before and what should I expect

A: Muscular Dystrophy is a general term for several forms of dystrophies. The most common form is Duchene Muscular Dystrophy. Others are like Becker, Limb-girdle, Myotonic, and Congenital Muscular Dystrophy, just to name a few. They all seem to be caused by a genetic defect that causes a decrease in the production of dystrophin in the muscle, which leads to necrosis of the muscle. All of these various muscular dystrophies will have different clinical courses and affect different muscle groups. What you will expect is your physician can only sit back and watch because they do not have the magic bullet for this one. What you can do is start a regiment of healthy low glycemic meals (I can supply recipes) next a high quality supplement in high dose (it gives his God made body the ability to defend itself) next if you can walk 20-30 minutes a day. Contact me through my site for the specifics. Help is here.

Q: Starting a foundation?
I have hypoglycemia, particularly a carnitine deficiency. I want to start a foundation for those who have the same problem. I know there is already a Hypoglycemia Foundation, but I want to start one particularly for those with a carnitine deficiency, because there is a medicine for it, but that many might not be able to afford. It transforms the lives of those who need it, so I believe this is really a great cause. How would I go about starting this foundation?

A: the laws on starting the nonprofit company vary by state. there are a lot of services online that will do that for you, but it's not hard to do it yourself. look it up on your state's secretary of state homepage. you can also found it in another state if you like their laws better - delaware is popular if i recall correctly. once you start your corporation you'll need to get 501c3 status, which means filling out paperwork and sending money to the irs. once you have that you'll be eligible for all sorts of grants from other foundations. if you can you might want to hire a grant writer, or recruit an experienced volunteer for that. side note - most (all?) pharmaceutical companies already have programs to help people who can't afford their meds. you can probably check with the company about that.

Q: Can I take 5-HTP, SAMe, tyrosine, l-carnitine and CoQ-10 together?
I have been suffering from on and off depression for most of my young adult life (i'm 19 years old at the moment), and am getting a number of possible organic causes tested for. I have had diabetes, celiac disease and nutritional deficiencies ruled out, and am next attempting to rule out allergies, mineral imbalances, toxicity, and hypto-thyroidism. If these don't result in any breakthroughs i'm resorting to self- medicating for depression. I plan to take SAMe and tyrosine in the morning, l carnitine and CoQ-10 a few hours later, and 5-HTP right before I go to sleep. Is there a possibility of any negative reactions among these drugs?

A: In almost all vitamin stores and health food stores, I have seen sections of the store devoted to "brain supplements" or "mood enhancers." Many of the ingredients in the brain and mood products are in combination form. In other words, a product in the Vitamin Shoppe, for example, might contain the amino acids L-carnitine and L-tyrosine plus herbs like ginkgo biloba and St. John's wort, and possibly CoQ10, phosphatidyl serine, 5-HTP, etc. Research on St. John's wort suggests it can be helpful for mild (or maybe moderate) depression. However, what many people don't know is that it can take at least 3 weeks to start working. This herb can also interact with some medications. So you should ask a health care professional about any possible bad interaction if you are taking any prescription medication. I suggest you start with St. John's wort since it has been researched more methodically than the other products you mentioned. The products you mentioned may or may not be helpful for you. There is not a lot of scientific proof that they work. There is only speculation and "testimonials." I suggest you avoid SAMe. I go to a weekly mood support group for people with depression, bipolar disorder, etc. SAMe is very expensive and I have never heard anyone report that it helped them. Finally, I doubt there would be negative interactions in the products you mentioned. Most of them have been sold in combination forms for years. For myself, I found exercise to be a very potent antidepressant. I also practice relaxation techniques like meditation. Psychotherapy has also been helpful for me.

Q: biochem q on LCAD and glycogen storage diseases?
Fraternal twins have episodes of fasting hypoglycemia, hypoketonemia, and muscle weakness occurring only during periods of caloric deprivation. One twin dies at 5 months of age. The surviving twin develops a cardiomyopathy, which is diagnosed at 3 years of age. Carnitine esters are elevated in muscle tissue and in serum. Which of the following is the most likely diagnosis? A. a-L-Iduronidase deficiency hunters B. Acid maltase deficiency (a 1,4-glucosidase deficiency) pompes C. Carnitine uptake deficiency D. Long-chain acyl CoA dehydrogenase (LCAD) deficiency E. Muscle glycogen phosphorylase deficiency mcardles i was torn between B and D on this q...since carnitine levels were high then id say D. but what else could distinguish this answer of d being correct? i said pompes aka b first since the infant died and it was a heart problem plus the symptoms were aggrevated in times of not eating. pompes is a glycogen storage disease where a lysozomal enzyme doesnt break down glyocgen so if someone didnt eat and needed the glycogen theyd be screwed with this genetic disorder. any help is appreciated.

A: I agree that the elevated carnitine levels point to answer D. But I am not sure of this. What mystifies me is why these children do not have elevated ketones.

Q: herbal adderall.... any exist? Looking for use for recreational purposes for energy, focus, and fatloss?
Adderllin.com This product contains.. Vitamin B3 Is a B vitamin with Nootropic effects. It is also has been noted for its use in people with Alzheimer’s disease. Vitamin B12 Is involved in the metabolism of every cell of the body, especially affecting the DNA synthesis and regulation but also fatty acid synthesis and energy production. Vitamin B12 deficiency can cause severe and irreversible damage, especially to the brain and nervous system. Vitamin B-12 gives a great natural energy boost. Guarana Guarana is an herb that is rich in caffeine. Research has also shown that guarana may affect how quickly the body perceives itself to be full as well. Bitter Orange Bitter orange is used as a stimulant and appetite suppressant which aids in weight loss. It contains several alkaloids such as synephrine that stimulate the body’s beta-3 receptors. Activating these receptors boosts your metabolic rate and energy levels to help increase fat burning and ultimately body fat loss. It also promotes the release of epinephrine and nor-epinephrine which boost mental energy and focus while indirectly helping body fat loss. Yohimbe Bark Extract It is of the tryptamine chemical class with stimulant and aphrodisiac effects. It is also known for it’s thermogenic effect. Like adderall® it is classified as pycho-stimulant that has Nootropic behavior. Choline Dihydrogen Citrate It is a naturally-occuring ammonium salt that is found in the lipids that make up cell membranes -in the neurotransmitter acetylcholine. Choline is the chemical precursor or “building block” needed to produce the neurotransmitter acetylcholine, and research suggests that memory, intelligence, and mood are mediated at least in part by acetylcholine metabolism in the brain. Acetyl-L-Carnitine ALCAR has neuroprotective benefits in the treatment of Parkinson’s disease. ALCAR plays many important roles in the body, but the most important one from a fat burning perspective is ALCAR’s role in escorting fatty acids to the cell’s mitochondria where they can be burned as fuel aiding in body fat loss. Bacopa Extract It has been used in India for several thousand years and is considered a “brain tonic” which enhances memory development, learning, and concentration thus fighting attention deficit hyperactivity disorder (ADHD). The herb shows significant psychotropic action as evidenced by excessive sleep and conformation changes in the brain as well as blood. It is also a potent antioxidant. Acetyl-L-Tyrosine Tyrosine is converted in the body to key biologic compounds. These compounds include epinephrine, dopamine, L-dopa, Co-Q10, and thyroid hormones. Caffeine Caffeine has nootropic effects, inducing positive changes in memory and learning. Both caffeine and naturally occurring caffeine found in guarana called guaranine are found in Adderllin. Dimethylaminoethanol DMAE is related to choline and is a biochemical precursor to the neurotransmitter acetylcholine. Studies have shown an increase in vigilance and alertness, with a positive influence on mood. White Willow Bark Extract White willow bark extract is added because a synergy occurs whenever ingredients are combined and the specific combination of those ingredients provides a greater benefit than the individual benefits that could be realized if each of those ingredients were taken independent of each other. Also known as a natural pain reliever. Piperine Piperine is an extract found from black pepper and is known for it’s increased uptake of nutrients and supplements. Vinpocetine Is an extract found in the periwinkle plant. Vinpocetine is reported to have a cerebral blood-flow enhancing and neuroprotective effects. It is also used as a drug in eastern european countries for the treatment of cerebrovascular disorders and age related memory impairment. Huperzine Is naturally occurring and extracted from the Firmoss plant. Huperzine has been shown to enhance memory and learning performance in clinical trials performed on China I hope this helped people who want to take an herbal alternative for recreational use.

A: Nice website - I was surprised at its functionality. I was also pleased to see the ingredients listed there as well - it sounds like a dynamite combination. I would have been happier to see a percentage or the mg of the separate ingredients for quality control. In time the FAQs may need to be expanded to include answers about norepinephrine and serotonin and MAO inhibition This is not a nutritional supplement for conditions such as Parkinson's disease although some constituents most certainly are such as Piperine. Because some ingredients function as AChE inhibitors, it would be contraindicated but that is a reason for using for AD.