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Welcome to OAUK

Note that most of these pages have first appeared in the OAUK Newsletter published from 1984 onwards, and some may be rather dated
Copies of this information may be obtained from the above address. Please send postage to suit 1st class letter mail rates. 

What are Organic Acidaemias?

Organic Acidaemias is a group of inherited genetic metabolic disorders in which there is a defect in protein metabolism. This is caused by there being a faulty or missing enzyme. This defect results in a build up of chemicals, in this case usually acids, on one side of the metabolic blockage and a deficiency of vital chemicals on the other. The resultant imbalance is an overdose of one chemical (which is often toxic) and the shortage of another that is essential to correct body functioning. Each Organic Acidaemia is a consequence of a different enzyme defect that results in difficulty in metabolising different groups of amino acids, the constituent parts of protein.

The consequences of such chemical imbalance are a deterioration of physical and / or mental well being. These conditions are often fatal. The effect of the disorder will depend upon the age at which the symptoms present as children with less severe forms of the conditions develop symptoms later.

Characteristics of the conditions include general malaise, reluctance to feed, breathing problems, vomiting, hypotonia (floppiness) and / or spasticity (stiffness). Early detection and treatment of the condition can greatly mitigate the effects of the disorder. Inheritance is autosomal recessive and pre-natal diagnosis is possible.

The Organic Acidaemias are as follows: 

2 Ketoadipic Acidaemia Holocarboxylase Deficiency
3 Hydroxyisobutyric Aciduria

Isovaleric Acidaemia

3 Methylcrotonyl CoA Carboxylase Deficiency

L2 Hydroxyglutaric Aciduria

3 Methylglutaconic Aciduria

Malonyl CoA Decarboxylase Deficiency

Biotinidase Deficiency

Methylmalonic Acidaemia

D2 Hydroxyglutaric Aciduria

Methylmalonic Aciduria and Homocystinuria

2, 4 Dienoyl CoA Reductase Deficiency

Mitochondrial Acetoacetyl CoA Thiolase Deficiency

3 Hydroxy 3 Methyglutaryl CoA Lyase Deficiency

Multiple Carboxylase Deficiency

Glutaric Aciduria Type 1 Propionic Acidaemia

 

 

For information on these consult the NORD Database - look under 'Acidaemia'

 

Overview of Amino Acids

   

Amino Acids are the "building Blocks" of the body. Besides building cells and repairing tissue, they form antibodies to combat invading bacteria viruses; they are part of the enzyme   hormonal system; they build nucleoproteins (RNA   DNA); they carry oxygen throughout the body and participate in muscle activity. When protein is broken down by digestion the result is 22 known amino acids. Eight are essential (cannot be manufactured by the body) the rest are non-essential (can be manufactured by the body with proper nutrition).

ARGININE (Non-Essential Amino Acid)

Studies have shown that is has improved immune responses to bacteria, viruses tumour cells; promotes wound healing and regeneration of the liver; causes the release of growth hormones; considered crucial for optimal muscle growth and tissue repair.

ASPARTIC ACID (Non-Essential Amino Acid)

Aids in the expulsion of harmful ammonia from the body. When ammonia enters the circulatory system it acts as a highly toxic substance which can be harmful to the central nervous system. Recent studies have shown that Aspartic Acid may increase resistance to fatigue and increase endurance.

CYSTINE (Non-Essential Amino Acid)

Functions as an antioxidant and is a powerful aid to the body in protecting against radiation and pollution. It can help slow down the aging process, deactivate free radicals, neutralize toxins; aids in protein synthesis and presents cellular change. It is necessary for the formation of the skin, which aids in the recovery from burns and surgical operations. Hair and skin are made up 10-14% Cystine.

GLUTAMIC ACID (Non-Essential Amino Acid)

Considered to be nature's "Brain food" by improving mental capacities; helps speed the healing of ulcers; gives a "lift" from fatigue; helps control alcoholism, schizophrenia and the craving for sugar.

GLYCINE (Non-Essential Amino Acid)

Helps trigger the release of oxygen to the energy requiring cell-making process - important in the manufacturing of hormones responsible for a strong immune system.

LEUCINE and ISOLEUCINE (Essential Amino Acid)

They provide ingredients for the manufacturing of other essential biochemical components in the body, some of which are utilized for the production of energy, stimulants to the upper brain and helping you to be more alert.

LYSINE (Essential Amino Acid)

Ensures the adequate absorption of calcium; helps form collagen (which makes up bone cartilage   connective tissues); aids in the production of antibodies, hormones   enzymes. Recent studies have shown that Lysine may be effective against herpes by improving the balance of nutrients that reduce viral growth. A deficiency may result in tiredness, inability to concentrate, irritability, bloodshot eyes, retarded growth, hair loss, and anaemia reproductive problems.

METHIONINE (Essential Amino Acid)

Is a principle supplier of sulphur which prevents disorders of the hair, skin and nails; helps lower cholesterol levels by increasing the liver's production of lecithin; reduces liver fat and protects the kidneys; a natural chelating agent for heavy metals; regulates the formation of ammonia and creates ammonia-free urine which reduces bladder irritation; influences hair follicles and promotes hair growth.

PHENYLALAINE (Essential Amino Acid)

Used by the brain to produce Norepinephrine, a chemical that transmits signals between nerve cells and the brain; keeps you awake and alert; reduces hunger pains; functions as an antidepressant and helps improve memory.

PROLINE (Non-Essential Amino Acid)

Is extremely important for the proper functioning of joints and tendons; also helps maintain and strengthen heart muscles.

SERINE (Non-Essential Amino Acid)

A storage source of glucose by the liver and muscles; helps strengthen the immune system by providing antibodies; synthesizes fatty acid sheath around nerve fibres.

TAURINE (Non-Essential Amino Acid)

Helps stabilize the excitability of membranes that is very important in the control of epileptic seizures. Taurine and sulphur are considered to be factors necessary for the control of many biochemical changes that take place in the aging process; aids in the clearing of free radical wastes.

THREONINE (Essential Amino Acid)

Is an important constituent of collagen, Elastin, and enamel protein; helps prevents fat build-up in the liver; helps the digestive and intestinal tracts function more smoothly; assists metabolism and assimilation.

TRYPTOPHAN (Essential Amino Acid)

A natural relaxant helps alleviate insomnia by inducing normal sleep; reduces anxiety   depression; helps in the treatment of migraine headaches; helps the immune system; helps reduce the risk of artery   heart spasms; works with Lysine in reducing cholesterol levels.

TYROSINE (Non-Essential Amino Acid)

Transmits nerve impulses to the brain; helps overcome depression; Improves memory; increases mental alertness; promotes the healthy functioning of the thyroid, adrenal and pituitary glands.

VALINE (Essential Amino Acid)

Promotes mental vigour, muscle coordination and calm emotions.

 

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