B-12 is Low (398), Folate is High, HCY is 55.6, uMMA is 1.7 , vitamin D and C and Magnesium are Low, all B vitamins are low.

[Hoyle]

Why is the GP not taking my labs seriously, I've been taking methylcobalamin tablets for a year and just began 5-MTHF because of Folate Deficiency found in my DNA, GP declined to do a MMA Blood serum test, I have been allergic to milk and beef since birth, peanuts followed with life threatening allergies , I'm on one antipsychotic now because of neurological symptoms, I eat chicken every day and have for all my life. I can't eat foods in high proteins either because I'm allergic and have skin breathing or psychotic symptoms if I do within 14 hours of eating them . I have the same diet each day I follow a PKU diet but my GP will not test that , I did the blood amino acids test and the GP has it but will not read the test because he didn't order it, I'm developmentally delayed and my mom has to help me with skills , I have other conditions but the amino acids test revealed a cobalamin issue but GP doesn't care to read it. My dad died of an autoimmune anemia just last year at 50 and I've been labeled ASD all my life, no one will help me in the medical field perform an IF intrinsic factor test or MMA blood I was lucky to get the amino acids test at my allergist who has no idea what it is just did it because I asked, and the OATS I had to pay on my own to get which has so much more issues . My dad developed psoriasis at 19 and eventually was disabled at 40 and died at 50 and not once was his b-12 ever ever ever checked can you help me , my mom had to help me write this. I've been to a hematologist who did nothing , a genetics counselor who tested just genes but no blood and I have no where to turn.

[Technoid]

Hi and welcome to the forum, Sorry to hear of your health troubles.

Firstly, I'm confused that you say you're trying to eat a low-protein diet but yet you eat chicken everyday which is the first high-protein food mentioned in this article : healthline.com/nutrition/10... . The article is not an exception, a dietician mentions chicken as the no.2 high protein food in this article : eatingwell.com/article/7938... . Were you advised by a registered dietician? You mention you're following a PKU diet but most sources mention Chicken as one of the foods to be avoided on this diet. However I'm less interested in compliance to the diet and more interested in why you're attempting to follow it in the first place? Were you diagnosed with phenylketonuria? If not then there's no reason to follow such a restrictive diet , especially not without the advice of a registered dietician as it could lead to health issues in and of itself.

Getting sufficient protein is important for everyone, especially younger people to ensure proper growth and development. Apps such as Cronometer can help you to track your protein intake and its worth trying to track a typical day to see if you're falling short. I would strongly advise you to verify any diagnosis which caused you to begin this diet and if confirmed, to work with a registered dietician to ensure you get the nutrients you need on this diet since its very restrictive and like any restrictive diet, poses health problems if followed without good nutritional advice.

I'm sorry but "Skin Breathing" is not a thing. Unless you're a frog, which, since you're on this forum I conclude you are not.

"I have the same diet each day". So I know how issues in your life can cause this to happen as I've been guilty of this myself in the past but its a really bad idea for your long-term health to stick to eating the exact same thing every day. It will cause significant problems down the line. Variety is very important for getting the right nutrients, vitamins, proteins, minerals and fibre and keeping your gut microbiome healthy. I recently heard someone compare it to a healthy rainforest - good biodiversity and lot of different plants and animals.... that's a good aim for your gut microbiome. Providing the same foods everyday is like monocrop agriculture, it depletes the soil of nutrients and soil fertility declines, or in the human case, the microbiome becomes less healthy, nutrient deficiencies arise and health and resistance to infection and disease declines.

It is not possible to diagnose a folate deficiency from DNA. I would strongly advise you not to work with any "doctor" or health practitioner who has drawn this conclusion from DNA testing alone. Many people have MTHFR mutations and apart from rare cases it does not significantly affect their folate metabolism. Please see the following extract from a CDC page:

"The MTHFR C677T variant affects how your body processes folate. You might have read or heard that folic acid is not safe if you have one or two copies of the MTHFR C677T variant. This is not true. Even if you have one or two copies of the MTHFR C677T variant, your body can safely and effectively process all different types of folate, including folic acid."

Source : cdc.gov/ncbddd/folicacid/mt...

Your serum B12 of 398 is not low by most European standards of B12 serum measurement but if you were taking B12 tablets at the time, the number is probably not reliable to rule out a deficiency.

You don't mention the units or ranges but it does look like you may have raised Homocysteine but urinary MMA is ok. These are not conclusive of themselves but the raised homocysteine needs investigation. If you can provide the units and ranges that would help.

If your diet is poor it would not surprise me that your Vitamin C, D, Magnesium and B-Vitamins are low. But be aware that blood serum Magnesium is not a good test for adequate magnesium. I've never heard of all B-Vitamins being tested, as some pose considerable difficulty in testing such as B1. You may have gut or absorption issues but if your diet is terrible its going to be hard to untangle whats going on as even someone with no gut issues would start showing nutrient deficiencies in time if they eat a really restrictive diet.

I would advise:

(a) Get the diagnosis of Phenylketonuria confirmed by a medical professional. Do not follow this restrictive PKU diet until its confirmed. If its confirmed, work with a reputable registered dietician to get your nutrition right. Your doctor should refer you if the condition is confirmed as you really dont want to be winging it on such a diet and causing nutrient deficiencies above and beyond any gut/absorption problems.

(b) Ask for investigation of the Homocysteine result. An IFAB (intrinsic factor antibody) test would be useful, if the doctor will not do so its possible to do it privately. You will need to be off B12 tablets for about 2 weeks before such a test to avoid invalidating the results.

I am sorry to hear of your dad and hope that you can get the tests you need to help you discover the next steps to follow to get better.

[Hoyle in reply to Technoid]

I was born with a severe allergy to milk on day one in this world beef was found allergic first year peanuts followed egg protein was just diagnosed and turkey and any high protein that I'm not allergic I have severe psychiatric issues.I don't want not to eat protein I'm anaphylaxis my parents have called 911 over 25 times or more in my life my GP will not help me ! Find out why I can't eat these foods chicken is the only one I have no IgE or skin reactions that swell my face throat even a splash on my skin of milk will cause whelps.

[Hoyle in reply to Hoyle]

I have a b-12 cobalamin genetic disorder I inherited , MTHFR C677TT that was diagnosed in 2020 and recently that my mom did on her own but my GP will not look at the labs nor send me to a dietician that I've asked to go to since 2020, I have severe Autism and my mom helps me everyday even write this I'm 20 in need of vitamin b-12 therapy because my body can't take the ones I take

[Technoid in reply to Hoyle]

MTHFR variants are not a genetic disorder in cobalamin (B12) metabolism. They relate to the processing of folate (B9).

I'm going to quote the CDC extensively here:

"Gene variants are common and normal. In fact, there are more people in the United States who have one or two copies of the MTHFR C677T variant than people who do not have it"

"Studies have shown that women who consume 400 mcg of folic acid each day generally has enough folate in their blood to help prevent neural tube defects, regardless of their MTHFR C677T genotype (CC, CT, or TT). This means your folic acid intake is more important than your MTHFR genotype for determining the amount of folate in your blood."

This means that, barring absorption issues, you should be able to get adequate folate from either a well-planned diet or from a moderate dosage supplement of 200mcg to 400mcg. You doctor should advise you here, based on your folate lab results. You can take methylfolate if you wish but it likely will not matter. If you have a B12 deficiency, B12 should be corrected before folate.

I am sorry that you are not getting a referral to a dietician as its clear to me that is the minimum that is needed here, perhaps your mum can speak to the doctor about this? It's quite important.

It sounds like you have a lot of allergy issues but I doubt Phenylketonuria is involved since chicken is quite a high protein food so that wouldn't make sense. Where did you get this diagnosis and decision to follow the PKU diet?

You need to work with an allergist and dietician at minimum to get to the root of these issues. I would ask your mum to have a word with your doctor on these issues so you can move forward.

With everything else thats going on its going to be hard to get adequate B12-related testing done with all the complicating factors involved, but I still advise to also get the homocysteine looked into.

[Hoyle in reply to Technoid]

My HCY is 55.6

[Hoyle]

I have a genetic condition called hypooxaluria if I spelled correct , I have a a diagnosis of homozygous to the T allele polymorphism known as MTHFR double mutation and I was diagnosed folate Deficiency and have to take 5-mthf and I have severe food allergies since birth I don't want to experience another 911 food crisis anaphylaxis

[Technoid in reply to Hoyle]

As far as I can tell there is no such condition as hypooxaluria, did you mean hyperoxaluria?

I already explained the MTHFR mutation in previous posts, did you read what I posted? It doesnt mean you need to take 5-MTHF. You need to work with your doctor and probably multiple specialists including an allergist and dietician as there's no way a layperson can advise you on what to do with so many things going on at once. Can you respond as to why you started to follow this PKU diet and whether you were diagnosed with Phenylketonuria by a medical professional?

[Showgem]

Hello, I am sorry that you have so many health problems that you and your mum are obviously doing your best to overcome and that you are getting so little help from your GP.

You really do need help from a qualified dietician to address your problems. Have you asked for a referral from your GP?

It may be that you would need to pay to see someone but there should be a registered dietitian within your area that could give you the help you need.

Even small changes to your diet would likely help with your deficiencies but obviously with so many allergies you will need professional help to advise you and monitor this.

[Casasue]

your right gp s don't take it seriously we all know it comes from Gastroenterology digestive tract gp s don't listen as it cost surgerys too administrate if you were roysl you have one a week.