Metabolicsupportuk.org
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome …
WebIt will also show a rise in levels of plasma polyamines, ornithine, glutamine, alanine and liver transaminases. The diagnosis can be confirmed through molecular genetic testing. Many of the serious symptoms and outcomes of HHH can be prevented by early detection through new-born screening and treatment.
Actived: 5 days ago
Congenital sucrase-isomaltase deficiency
WebCongenital sucrase-isomaltase deficiency (CSID) is an inherited metabolic disorder where you are unable to digest certain high sugar foods. When an infant is weaned, they start to consume fruits, fruit juices and other high sugar containing foods as part of their diet. In our body we have substances which can break down these sugars, so they
Methylenetetrahydrofolate Reductase Deficiency
WebThis condition is caused by a defect in the gene you inherit from your parents. This gene usually produces a substance called the MTHFR enzyme. This enzyme converts the inactive form of folate into the active form for the body to use. However, due to this gene deficiency the body cannot produce this enzyme to metabolise folate.
Ketotic hypoglycaemia
WebGet in touch. Contact our caring team on 08452 412 173 for help and support. Our phone lines open 10am-4pm, Monday to Friday. Prefer to email? Our email address is [email protected]. Who are Metabolic Support UK? Watch on.
Trimethylaminuria
WebThe main symptom of Trimethylaminuria is a strong odour that may be described as smelling like rotten fish, eggs, rubbish, or urine. The smell is usually noticeable in your sweat, urine, and breath. Females may also experience the smell from their vagina. There are reports that suggest the symptoms of the disorder may become worse during puberty.
Pearson syndrome
WebGet in touch. Contact our caring team on 08452 412 173 for help and support. Our phone lines open 10am-4pm, Monday to Friday. Prefer to email? Our email address is [email protected]. Who are Metabolic Support UK? Watch on.
Lactose Intolerance
WebThis is a rare form of lactose intolerance and becomes apparent within infancy and new born babies. Developmental lactose intolerance is caused when the new born baby is born prematurely. This occurs due to the small intestine not being fully formed in the new born body. This type of lactose intolerance usually gets better as the baby gets older.
Glucose-6-Phosphate Dehydrogenase Deficiency
WebGlucose-6 phosphate dehydrogenase deficiency is caused by a genetic defect to the G6PD gene which produces the G6PD enzyme, this enzyme breaks down carbohydrates. G6PD is also responsible for producing the substance NADPH which is an important co-factor of metabolism and is involved in the protection of your red blood cells.
Long chain acyl CoA dehydrogenase deficiency
WebContact our caring team on 08452 412 173 for help and support. Our phone lines open 10am-4pm, Monday to Friday. Prefer to email? Our email address is [email protected]. Who are Metabolic Support UK? Watch on.
Primary Carnitine Deficiency
WebSigns and symptoms for the metabolic condition, Primary Carnitine deficiency include: Lethargy/tiredness/fatigue. Poor food intake/ feeding. Brain damage. Confusion. Acute and chronic seizures. Vomiting. Levels of carnitine within blood sample below normal threshold values. Insufficient weight gain or weight loss.
Phosphoserine Phosphatase Deficiency
Web3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome. This condition is caused by mutations to the PSPH gene. PSPH provides instructions for the PSPH enzyme that catalyses the final and irreversible step of the amino acid L-serine’s synthesis. Serine’s function is to help form the phospholipids
Metabolic centres in the UK & ROI
WebSouth West Regional Metabolic Department. Paediatric Metabolic Consultant. Bristol Royal Hospital for Children. Division of Women’s and Children’s services. Level 6 UHBT, Education Centre. Upper Maudlin Street. Bristol. BS2 8AE. *Plus outreach clinics in Truro, Plymouth, Exeter, Taunton and Bath.
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