Metabolic Disorders

Growth Hormone Deficiency

Growth Hormone is manufactured in the pituitary gland. If it is missing or reduced in quantity during infancy or childhood, it results in growth retardation, short stature and other maturation delays. Growth Hormone Deficiency (GHD) causes an absence or delay of lengthening and widening of the skeletal bones inappropriate to the chronological age of the child. A sufficient quantity of growth hormone is required during childhood to maintain growth and normalize sexual maturity.

Homocystinuria

Homocystinuria is a rare metabolic condition characterized by an excess of the compound homocystine in the urine. It is an inherited autosomal recessive trait, which means a child needs to inherit the defective gene from both parents to be affected. The condition may result from deficiency of any of several enzymes involved in the conversion of the essential amino acid methionine to another amino acid cysteine, or less commonly, the impaired conversion of the compound homocysteine to methionine. Enzymes are proteins that accelerate the rate of chemical reactions in the body. Certain amino acids, which are the chemical building blocks of proteins, are essential for proper growth and development. Due to deficiency of the CBS enzyme, infants with Homocystinuria may fail to grow and gain weight at the expected rate and have developmental delays.

Hypercalcemia

A medical condition in which abnormally high concentrations of calcium compounds are found in the bloodstream. It can be an asymptomatic laboratory finding, but because an elevated calcium level is often indicative of other diseases, a diagnosis should be undertaken if it persists. It can be due to excessive skeletal calcium release, increased intestinal calcium absorption, or decreased renal calcium excretion.

Hyperparathyroidism

The presence of excess parathyroid hormone in the body results in the disturbance of calcium metabolism with an increase in serum calcium and decrease in inorganic phosphorus, a loss of calcium from bone and renal damage with frequent kidney-stone formation.

Hypocalcemia

An abnormally low calcium concentration can result in muscle cramps, abdominal cramps, spasms and hyperactive deep tendon reflexes. It is a type of electrolyte disturbance. In the blood, about half of all calcium is bound to proteins such as serum albumin, but it is the unbound, or ionized, calcium that the body regulates. If a person has abnormal levels of blood proteins, then the plasma calcium may be inaccurate.

Hypoglycemia

Hypoglycemia is low blood sugar. It occurs when the level of sugar, or glucose, in the blood drops too low to fuel the body. Hypoglycemia is not a disease but a condition that results from a variety of causes. Hypoglycemia can occur in people with diabetes who take certain medications to keep their blood glucose levels in control. Usually hypoglycemia is mild and can easily be treated by eating or drinking something with carbohydrate. But left untreated, hypoglycemia can lead to loss of consciousness. Although hypoglycemia can happen suddenly, it can usually be treated quickly, bringing your blood glucose level back to normal.