As the name suggests, this class of disorders is the one that results in abnormal carbohydrate metabolism, such as glycogen storage disease, also known as glycogenosis. This disorder causes abnormal processing or synthesis of glycogen, which is the storage form of glucose in humans. Glycogen storage disease (GSD) can be of two types, either genetic or acquired. GSD type 1 is also known as Von Gierkeâ€™s disease, in which glucose-6-phosphatase, an enzyme involved in glycogen breakdown, is deficient; thus, the body cannot synthesize free glucose from glycogen, which results in hypoglycemia, a condition where the blood glucose levels drop.
GSD type 2 or Pompeâ€™s disease is an autosomal recessive condition where the muscle and the nerve cells in the body are damaged. It causes a deficiency of the enzyme lysosomal acid alpha-glucosidase, which produces glucose from glycogen in the lysosomes. Hence, glycogen accumulates in these organelles. Such accumulation causes progressive muscle tissue degradation in the body and can also affect the heart, facial, or oral muscles. The gene responsible for this disease is located on the long arm of chromosome 17. The condition is generally progressive, and a lifespan of approximately two years is expected for the patients.
Disorders of amino acid metabolism- Phenylketonuria
Phenylketonuria (PKU) is also an autosomal recessive genetic condition that alters the expression of a hepatic enzyme, that is, the enzyme found in the liver cells (hepatocytes). The disorder leads to a deficiency of an enzyme called phenylalanine hydroxylase (PAH). This enzyme catalyzes the conversion of the amino acid phenylalanine into tyrosine. PKU patients are deficient in PAH; hence, the excess of phenylalanine gets converted into phenylpyruvate, which accumulates and can be detected in the urine sample for diagnosis. The accumulation of this product produces symptoms such as progressive mental retardation, brain seizures, etc. Since the symptoms of this condition occur because the body is unable to metabolize phenylalanine, the treatment aims at lowering the phenylalanine intake through diet. The patients are advised to avoid high phenylalanine diets such as meat, cow milk, and other dairy products. Artificial sweeteners such as aspartame, which are rich in phenylalanine, are also not good for such patients. Another thing that the treatment focuses on is supplementing the body with tyrosine, which is normally produced by phenylalanine. Thus, tyrosine supplements have to be taken along with some low phenylalanine fruits and vegetables to provide the patient with other essential nutrients.
Disorders of organic acid metabolism- Alkaptonuria
This disease is also known as the black urine disease, and like PKU, it is also a rare genetic disorder. This is an autosomal recessive condition where the enzyme homogentisate-1, 2-dioxygenase, is deficient. This enzyme is responsible for tyrosine degradation. The deficiency in this enzyme results in the accumulation of a toxic byproduct called homogentisic acid, also known as alkapton. The excess of these products damages the cartilage, causing osteoarthritis, and can also create kidney stones.
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