A 42 year old woman fighting many health conditions since birth!
My analysis of the 42 year old female patient fighting multiple health conditions since birth:
Before I start,here is a link which provides complete information about the patient:
1.Jaundice at birth
(which suggests that there may be hemolysis at birth)
2.Sleeplessness
(which might have occurred due to G6PD Deficiency or AMPD1 deficiency)
{These diagnoses were suspected based on other symptoms like:
Anaemia, Exacerbation of symptoms after consumption of flava beans and antiviral drugs for G6PD deficiency.
Muscle dysfunction for AMPD1 deficiency.}
Muscle dysfunction for AMPD1 deficiency.}
3.Fluctuating Edema
(Overview of G6PD deficiency: https://medlineplus.gov/ency/article/000528.htm)
(Edema wasextremely fluctuating within days and trigger points as mentioned by the patient were Emotional stress, Eating wrong food, Exercise in excess, Smoke.
It relieved spontaneously.
Associated with SOB and dark urine.
These features are suggestive of G6PD deficiency which causes damage to the organs like kidney by free radicals because of lack of NADPH.
Also kidney needs a lot of energy for ions active transport and water balance in the body. The Edema have occurred because of excessive loss of ions.
Also the Hemolysis caused because of G6PD deficiency is responsible for fatigue and SOB because of reduced red blood cell count. The same must have been the reason for dark coloured urine also as complained by the patient.)
(Edema wasextremely fluctuating within days and trigger points as mentioned by the patient were Emotional stress, Eating wrong food, Exercise in excess, Smoke.
It relieved spontaneously.
Associated with SOB and dark urine.
These features are suggestive of G6PD deficiency which causes damage to the organs like kidney by free radicals because of lack of NADPH.
Also kidney needs a lot of energy for ions active transport and water balance in the body. The Edema have occurred because of excessive loss of ions.
Also the Hemolysis caused because of G6PD deficiency is responsible for fatigue and SOB because of reduced red blood cell count. The same must have been the reason for dark coloured urine also as complained by the patient.)
4.Neurological Symptoms
(The patient gave a history of delayed development associated with multiple neurological symptoms of Aggression, Anxiety, Sensory disorders, Severe headaches.
Her neurological symptoms can be attributed to Glycine deficiency due to G6PD deficiency - This might cause cerebral Edema.
Her head aches were preceded by Aura and associated with numbness and vertigo. She had a history of CSF rhinorrhoea.
Oxidative damage to the brain because of depleted NADPH might be responsible.)
(The patient gave a history of delayed development associated with multiple neurological symptoms of Aggression, Anxiety, Sensory disorders, Severe headaches.
Her neurological symptoms can be attributed to Glycine deficiency due to G6PD deficiency - This might cause cerebral Edema.
Her head aches were preceded by Aura and associated with numbness and vertigo. She had a history of CSF rhinorrhoea.
Oxidative damage to the brain because of depleted NADPH might be responsible.)
5.Fatigue
(This must have caused directly because of haemolytic anaemia and less red blood cell count.]
AMPD1 deficiency causing muscle weakness because OD decreased aerobic input and increased anaerobic output. Following are some other conditions noticed:
(This must have caused directly because of haemolytic anaemia and less red blood cell count.]
AMPD1 deficiency causing muscle weakness because OD decreased aerobic input and increased anaerobic output. Following are some other conditions noticed:
- Excessive body hair at the age of 3.
- Increased pain tolerance - WNK1 Hereditary Sensory Neuropathy.
- MTHFR gene - Hyperhomocystinemia
- VWF mutation - bleeding disorders, Menstrual bleeding.
- ANKK1 - ADHD
- Increased risk of infections
Family history:
Both the parents of the patient were chronic smokers
Mother was diagnosed for fibromyalgia.
Father had heart attack at the age of 40
Her grand father had an early death.
Genetics:
Seattle type G6PD deficiency see
AMPD1 - AMPD1 deficiency heterozygous
MTHFR - homozygous for C677T of MTHFR = 10-20% efficiency in processing folic acid = high homocysteine, low B12 and folate levels
Seattle type G6PD deficiency see
AMPD1 - AMPD1 deficiency heterozygous
MTHFR - homozygous for C677T of MTHFR = 10-20% efficiency in processing folic acid = high homocysteine, low B12 and folate levels
AMPD1 deficiency
WNK1 mutation😃🤎Zws 3*-/,7-(9*7=!¥~ :; à v cS
HLA-DRA - 3x higher risk for developing a peanut alleree4zgy In populations of European ancestry
VWF - association with Von Willebrand disease type 1
Kk k.nnsddx TXT, DD
DIO2 - 1.3-1.79x risk of osteoarthritis, 3.75x bipolar, etc.
CHRNA5 - higher risk for nicotine dependence, lower risk for cocaine dependence
ANKK1 - Tarvtxq bb ñnbnn kkdive Diskinesia risk, higher ADHD risk. More Alcohol Dependence. Lower risk of Postoperative Nausea. Increased obesity.
TG - 1.3x to 11.5x Increased risk of autoimmune thyroid disease
LOXL1 LOXL1-AS1 - common but 10x higher glaucoma risk in most (but not all) populations
PNPLA3 - increased liver fat, odds of alcoholic liver disease
BACE1 - 2x increased ALZ risk in ApoE4 carriers
BSN - 1.1x risk Crohn's Disease
Increased risk for Alzheimers, ADHD, Autoimmune thyroid & other autoimmune disorders, lung cancer, cluster headache, Obesity, raised ICP, Diabetes, RA, Bipolar disorders, Lung cancer and issues
WNK1 mutation😃🤎Zws 3*-/,7-(9*7=!¥~ :; à v cS
HLA-DRA - 3x higher risk for developing a peanut alleree4zgy In populations of European ancestry
VWF - association with Von Willebrand disease type 1
Kk k.nnsddx TXT, DD
DIO2 - 1.3-1.79x risk of osteoarthritis, 3.75x bipolar, etc.
CHRNA5 - higher risk for nicotine dependence, lower risk for cocaine dependence
ANKK1 - Tarvtxq bb ñnbnn kkdive Diskinesia risk, higher ADHD risk. More Alcohol Dependence. Lower risk of Postoperative Nausea. Increased obesity.
TG - 1.3x to 11.5x Increased risk of autoimmune thyroid disease
LOXL1 LOXL1-AS1 - common but 10x higher glaucoma risk in most (but not all) populations
PNPLA3 - increased liver fat, odds of alcoholic liver disease
BACE1 - 2x increased ALZ risk in ApoE4 carriers
BSN - 1.1x risk Crohn's Disease
Increased risk for Alzheimers, ADHD, Autoimmune thyroid & other autoimmune disorders, lung cancer, cluster headache, Obesity, raised ICP, Diabetes, RA, Bipolar disorders, Lung cancer and issues
{whole genome sequencing helps a lot to understand about these genetic conditions}
Treatment:
1- Ribose diet
2- L serine for sleep
3- cutting oxidative stress
4.vitamin B complex
5.antioxidant vitamins
6.fructose+antioxdants
7 salt + butter
8.keto diet.
9. iron folate supplemets.
10. antioxidant supplement pycnogenol
11.cimetidine for swelling - tried and helped
12. NAC
Hope my blog was helpful and informative.
THANK YOU.
