Acidosis - Abnormally high level of acidity, or low level of alkalinity, in the body fluids, including the blood. Acidosis may be respiratory or metabolic in origin.

Alkalosis - It is a condition of excess alkalinity of the blood resulting from a loss of hydrogen ions.

Anemia, Iron-Deficiency - Most frequent type of anemia, which may develop when the body's iron loss is high and its iron stores are depleted (e.g.,during periods of rapid growth, pregnancy, or menstruation or other sources of chronic blood loss) or when a person's dietary iron intake is low or his assimilation of iron is inefficient (e.g., starvation, intestinal parasite infestation, removal of part or all of stomach).

Avitaminosis - It (vitamin lack) may be encountered when there are increased losses of vitamins such as occur with chronic severe diarrhea or excessive sweating or when there are increased requirements for vitamins during periods of rapid growth, especially during childhood and pregnancy. Fever and the endocrine disorder hyperthyroidism are two additional examples of conditions that require higher than the usual levels of vitamin intake.

Beriberi - Also called VITAMIN B₁ DEFICIENCY, nutritional disorder caused by a deficiency of vitamin B₁ (thiamine) and characterized by impairment of the nerves and heart. General symptoms include loss of appetite and overall lassitude, digestive irregularities, and a feeling of numbness and weakness in the limbs and extremities.

Carnitine Palmitoyl Transferase Deficinecy 

Dehydration - Dehydration in food processing, means by which many types of food can be preserved for indefinite periods by extracting the moisture, thereby inhibiting the growth of microorganisms.

Cystinosis - Inborn error of metabolism resulting in the deposition of crystals of the amino acid cystine in various body tissues. Tissues that are particularly affected include the bone marrow, liver, cornea (where the crystals can be seen), and kidney.

Diabetes Insipidus - Pathological endocrine condition characterized by extreme thirst and excessive production of very dilute urine.

Diabetes Insipidus, Nephrogenic - This (NDI) results when the supplies of vasopressin are adequate but the kidney tubules are unresponsive --either genetically or because of potassium depletion, high levels of serum calcium, or other disorders.

Fabry Disease - Also called ANGIOKERATOMA CORPORIS DIFFUSUM, sex-linked hereditary disease in which a deficiency in the enzyme alpha-galactosidase. Distinctive clusters of dark red granules in the skin on the abdomen and knees of victims led early students of the disease to consider it a skin disorder, as the alternative name reflects; later findings indicated the kidney involvement and blood lipid deposits that are the more significant characteristics of the disease.

Fatty Acid Oxidation Disorders

Fucosidosis

Glucosephosphate Dehydrogenase Deficiency - Hereditary metabolic defect characterized by an increased tendency of the red blood cells to break and release their hemoglobin (hemolysis), especially after the intake of certain drugs. The condition is caused, as the name indicates, by the markedly reduced activity in the red blood cells of a particular organic catalyst, or enzyme, called glucose-6-phosphate dehydrogenase.

Glutaric Acidemia

Glycogen Storage Disease - Also called Glycogenosis, any of a group of enzymatic deficiencies resulting in altered glycogen metabolism.

Carbohydrate-Deficient Glycoprotein Syndrome

Homocystinuria - Hereditary metabolic disorder involving methionine, a sulfur-containing essential amino acid.

Hepatolenticular Degeneration -  A hereditary defect associated with the metabolism of copper and characterized by the progressive degeneration of the basal ganglia of the brain (large group of nuclei involved in the control of movement), the development of a brownish ring at the margin of the cornea, and the gradual replacement of liver cells with fibrous tissue.

Hemosiderosis - Pulmonary hemorrhage also occurs as part of a condition known as pulmonary hemosiderosis, which results in the accumulation of the iron-containing substance hemosiderin in the lung tissues.

Hemochromatosis - Also called IRON STORAGE DISEASE, OR BRONZE DIABETES, inborn metabolic defect characterized by an increased absorption of iron, which accumulates in body tissues. The clinical manifestations include skin pigmentation, diabetes, enlargement of the spleen and liver, heart failure, and general weakness and lassitude.

Hartnup Disease - Inborn metabolic disorder involving the amino acid tryptophan. Disease include episodic scaly red rashes over exposed areas of the body, identical in appearance with those of classical pellagra; thought processes and behaviour may also be abnormal.

Gilbert Disease

Gaucher Disease - Rare inherited metabolic disorder characterized by anemia, mental and neurologic impairment, yellowish pigmentation of the skin, and bone deterioration resulting in pathological fractures.

Galactosemias - A hereditary defect in the metabolism of the sugar galactose, which is a constituent of lactose, the main carbohydrate of milk. Infants with this condition appear normal at birth, but, after a few days of milk feeding, they begin to vomit, become lethargic, fail to gain weight, and show an enlargement of the liver, stunted in growth; 
cataracts in the eyes and mental retardation may also occur.

Hurler's Syndrome - Also called GARGOYLISM, OR MUCOPOLYSACCHARIDOSIS I, one of several rare genetic disorders involving a defect in the metabolism of mucopolysaccharides, the class of polysaccharides that bind water to unite cells and to lubricate joints.

Hyperkalemia - Hyperkalemic paralysis begins in infancy and is characterized by more frequent but milder attacks that last minutes or hours

Hyperlipidemia

Hyperprolactinemia - This caused because of excessive prolactin production  is a common endocrine abnormality, and the prolactinoma is the most frequently encountered pituitary tumour.

Hyperinsulinemia

Hypercalcemia

Hypervitaminosis A - Toxic condition most frequently produced by a high intake of vitamin A, generally 150 mg daily over a period of several months. Unlike the water-soluble vitamins (e.g., ascorbic acid, thiamine, riboflavin), vitamin A is soluble in fat, and a surplus in the body is not eliminated in the urine but rather is stored in the liver, where it may eventually reach toxic levels.

Hypoglycemia - Reduction of the concentration of glucose in the blood serum below normal levels, commonly occurring as a complication of treatment for diabetes mellitus. 

Hyperoxaluria

Hypokalemia - A form of high blood pressure associated with hypokalemia and reduced acidity of the blood (alkalosis) in patients who harboured a benign tumour of adrenal glomerulosa cells.

Hyponatremia - Isolated aldosterone deficiency results in a low level of sodium in the serum (hyponatremia) along with an elevated level of potassium (hyperkalemia). These biochemical changes produce weakness as well as an increased risk of dangerous abnormalities in heart rhythm, some of which are fatal.

Hypophosphatasia - Alkaline phosphatase deficiency is a hereditary trait called hypophosphatasia, which results in bone deformities. In severe cases, the deficiency leads to early death from infection. Alkaline phosphatase is also present in the blood and is an important clinical diagnostic indicator for several illnesses, including chronic myelogenous leukemia.

Kwashiorkor ( --> Starvation) - Also called PROTEIN MALNUTRITION, condition caused by severe protein deficiency. Kwashiorkor is common in young children weaned to a diet consisting chiefly of cereal grains, cassava, plantain, and sweet potato or similar starchy foods.

Leigh Disease - Also called Subacute necrotizing encephalopathy, is a lethal disorder of infancy marked by psychomotor delay, myoclonic jerks, paralyses of eye movements, and respiratory disorders. The precise biochemical defect is unknown, but thiamine metabolism is likely to be involved. Seizures in early childhood are the main feature of pyridoxine dependency, an inherited abnormal metabolic requirement for the vitamin.

Lesch-Nyhan Syndrome - Hereditary metabolic disorder affecting the central nervous system and characterized by incoordination, mental retardation, aggressive behaviour, and compulsive biting. The cause of the syndrome is a defective organic catalyst or enzyme. The Lesch-Nyhan syndrome is transmitted by a recessive sex-linked gene, affecting chiefly males, and it is possible to detect it before birth in the offspring of women known to be carriers of the trait.

Lipoidosis - A disorder of lipid metabolism in the body tissues.

Lysosomal Storage Diseases - These are genetic disorders in which a genetic mutation affects the activity of one or more of the acid hydrolases. In such diseases, the normal metabolism of specific macromolecules is blocked and the macromolecules accumulate inside the lysosomes, causing severe physiological damage or deformity.

Magnesium Deficiency - Also called HYPOMAGNESEMIA, condition in which an organism fails to receive an adequate supply of magnesium, a mineral that is essential to enzyme reactions in the metabolism of ingested carbohydrates and sometimes has the ability to replace a portion of body calcium. Symptoms of deficiency include weakness, dizziness, distension of the abdomen, and convulsive seizures.

Mannosidosis

Maple Syrup Urine Disease - Inherited metabolic disorder. Signs of the disorder that are evident during the first few weeks of life include: poor feeding, irregular respiration, heightened muscular tension, and rigid arching of the back; the nervous system is also severely impaired.

Marasmusp ( --> Starvation)

McArdle Disease ( --> Glycogen Storage Disease) - Rare hereditary deficiency of the enzyme glycogen phosphorylase in muscle cells.

MELAS Syndrome

Mitochondrial Disorders 

Mucopolysaccharidoses - Any of a group of genetic disorders characterized by the abnormal production, storage, and excretion of one or more mucopolysaccharides, the complex carbohydrates that are the chief constituents of the so-called ground substance, which fills the spaces between the cells and fibres of the connective tissues. These disorders cause abnormal skeletal development, mental retardation, and shortened life spans.

Mucolipidoses

Niemann-Pick Diseases - Inherited metabolic disorder in which a deficiency of the enzyme sphingomyelinase impairs the breakdown of the phospholipids lecithin and sphingomyelin, causing them to accumulate in various body tissues. Symptoms consist of extreme liver and spleen enlargement, mental retardation, and a brownish-yellow skin discoloration; foamy cells containing phospholipids are found in several organs.

Obesity - Also called CORPULENCE, OR FATNESS, excessive accumulation of body fat, usually caused by the consumption of more calories than the body can use. The excess calories are then stored as fat, or adipose tissue. Overweight, if moderate, is not necessarily obesity, particularly in muscular or large-boned individuals.

Ornithine Carbamoyltransferase Deficiency Disease

Osteomalacia - Progressive loss of calcium and phosphorus from the bones in adult humans. The condition may occur after several pregnancies or in old age, resulting in softening and curving of the bones and increased susceptibility to fractures.

Pellagra - Nutritional disorder caused in large part by a deficiency of niacin, a member of the vitamin B complex, and characterized by skin lesions and by gastrointestinal and neurological disturbances--the so-called classical three Ds of pellagra: dermatitis, diarrhea, and dementia.

Phenylketonurias - (pku) - Also called PHENYLPYRUVIC OLIGOPHRENIA, hereditary inability of the body to normally metabolize the amino acid phenylalanine.

Pompe's Disease ( --> Glycogen Storage Disease) - Also called GLYCOGENOSIS TYPE II, hereditary defect in the body's ability to metabolize glycogen, resulting in a muscle disorder that is usually fatal during the first year of life.  In Pompe's disease, glycogen accumulates in all body tissues, but especially in the muscles, causing enlargement of the heart, cardiac muscle failure, and breathing difficulties.

Porphyria - Any of a group of diseases characterized by the marked overproduction and excretion of porphyrins or of one or another of their precursors. The porphyrins are reddish constituents of heme, the deep red iron-containing pigment of hemoglobin, the oxygen-carrying protein of the red blood cells.

Progeria - Human disorder with many characteristics of premature aging. Affected persons have parchment-like skin, become bald or gray-haired early in life, and tend to develop diseases related to aging decades before they occur in normal individuals.

Refsum Disease ( --> Peroxisomal Disorders)

Rickets - A disease of children caused by vitamin D deficiency, characterized by imperfect calcification, softening, and distortion of the bones typically resulting in bow legs.

Sanfilippo Syndrome
(--> Mucopolysaccharidosis III) - Rare hereditary (autosomal recessive) metabolic disease characterized by severe mental retardation. Features of the disease include excessive hair growth and progressive partial paralysis of all four limbs. Mild growth retardation may occur, causing moderate dwarfism, but this is neither as common nor as severe as in related mucopolysaccharidoses.

Scheie Syndrome ( --> Mucopolysaccharidoses) - Uncommon hereditary metabolic disease characterized by clawing of the hands, corneal clouding, incompetence of the aortic valve of the heart, and painful nerve compression in the wrist (carpal tunnel syndrome).

Scurvy (--> Vitamin C Deficiency) - Also called VITAMIN C DEFICIENCY, one of the oldest known nutritional disorders of humankind, caused by a dietary lack of vitamin C. Scurvy is characterized by swollen and bleeding gums with loosened teeth, soreness and stiffness of the joints and lower extremities, bleeding under the skin and in deep tissues, slow wound healing, and anemia.

Starvation

Syndrome X ( --> Hyperinsulinemia)

Tay-Sachs Disease - Also called AMAUROTIC FAMILIAL IDIOCY, hereditary metabolic disorder that causes progressive mental and neurologic deterioration and results in death in early childhood.

Tetrahydrobiopterin Deficiency

Tyrosinemia - Also called TYROSINOSIS, inherited inability of the body to metabolize normally the amino acid tyrosine.

Urea Cycle Disorders (not on MeSH)

Vitamin B 12 Deficiency - Also called RIBOFLAVIN DEFICIENCY, a condition caused by a dietary lack of riboflavin (vitamin B₂), an organic compound of the vitamin B complex. Deficiency is characterized by variable symptoms that may include reddening of the lips with cracks at the corners of the mouth (cheilosis); inflammation of the tongue (glossitis); ocular disturbances, such as vascularization of the eyeball with eyestrain and abnormal intolerance of light; and a greasy, scaly inflammation of the skin.

Wernicke Encephalopathy - Some nerve disorders were described in that work for the first time; one of them is Wernicke's encephalopathy, caused by a thiamine deficiency.

Wilson's Disease ( --> Hepatolenticular Degeneration) - Also called HEPATOLENTICULAR DEGENERATION, a hereditary defect associated with the metabolism of copper and characterized by the progressive degeneration of the basal ganglia of the brain (large group of nuclei involved in the control of movement), the development of a brownish ring at the margin of the cornea, and the gradual replacement of liver cells with fibrous tissue.