Chronic Granulomatous Disease is a deficiency of NADPH oxidase. This results in the arrest of the Myeloperoxidase system which is very important in fighting infections. This also results in chronic pyogenic infections since there is no respiratory burst in the immune system. Individuals with this disorder are prone to infections from a aerobic organisms.

Insulin deficiency that results in increased glucose levels can cause Diabetes Mellitus.
In type I DM, the insulin dependent type, beta cells are destroyed and there is no insulin production. This occurs as a child and can result in ketoacidosis. The treatment is insulin to sustain life. In type 2 DM, the non - insulin dependent type, Insulin deficiency results in increased glucose level, glucosuria, and ketogenesis. This occurs as a result of "lazy" beta cells and peripheral resistance of insulin. It occurs in individual over 35 years old, and is associated with obesity. It includes about 90% of all diabetics. The treatment is dieting and then oral hypoglycemics if there is poor compliance or difficulty in controlling the blood sugars levels.

Galactokinase Deficiency is an autosomal recessive disease, resulting in increased galactose in the urine. Most enzyme deficiencies are autosomal recessive.

Homocystinuria is the increased urine levels of homocystine. May treat with dietary Vitamin B6 (pyridoxine) and cysteine. Cannot methylate homocysteine into methionine. Homocysteine is oxidized into homocystine. Deficiency of cystathionine synthetase.

Phenylketonuria results from a deficiency of phenylalanine hydroxylase. The patient must eliminate phenylalanine from the diet. Tyrosine must be supplied in the diet since it cannot be made from phenylalanine. Neonatal screening test: Guthrie Test may show false negative if done at birth. It should be done 48 - 72 hours after. Deficiency of homogentisate oxidase is called Alkaptonuria. It causes darkened urine when standing.

There are also those disorders that are due to a discrepancy in the Urea Cycle. These are:

Carbamoyl phosphate synthetase deficiency which causes hyperammonemia. Omithine transcarbamoylase deficiency which causes hyperammonemia, as well as orotic aciduria. Citrullinemia is deficiency of argininosuccinate synthetase. It causes increased citrulline level.Argininemia which is the deficiency of argininosuccinase. It causes argininosuccinate in the urine. Maple Syrup Urine Disease is a disease that was named because of the "sweet urine."It is due to a deficiency of keto-acid (branched-chain) dehydrogenase. Therefore, branched-chain ketoacids in urine. The branched-chain amino acids are isoleucine, leucine, and valine. To treat, the diet must be low in branched-chain amino acid.

There are disorders in the Glycogen storage. These diseases causes tremendous illness and depression of the immune system. these disorders are:



VON GIERKE'S (TYPE I GSD)
Deficiency of glucose-6-phosphatase. Hepatomegaly is seen.

POMPE'S (TYPE II GSD)
Deficiency of α-1.4-glucosidase and lysosomal acid maltase (a debranching enzyme).
Cardiomegaly, restrictive cardiomyopathy, occurs as the heart stores glycogen.

CORI'S
Deficiency of the debranching enzyme, amylo-1.6-glucosidase.
Effects limit dextrin conversion to glucose.

MCARDLE'S (TYPE V GSD)
Deficiency of muscle phosphorylase.
Increased glycogen since can't breakdown glycogen to glucose.
There is weakness and cramps in the muscle.

HERS
Deficiency of liver phosphorylase.
Increased glycogen.

PHOSPHORYLASE B KINASE DEFICIENCY
Deficiency of liver phosphorylase b kinase.
Increased glycogen due to inability to activate to the phosphorylase a.

Lipid disorders also cause a great threat to our body. These are the Lipid disorders:

FAMILIAL HYPERCHOLESTEROLEMIA
Mutated LDL receptors that reduce binding of LDL.
Increased level of cholesterol.


FAMILIAL LIPOPROTEIN LIPASE DEFICIENCY
Deficiency of lipoprotein lipase
Increased levels of chylomicron triglyceride.

FAMILIAL LCAT DEFICIENCY
Deficiency of lecithin: cholesterol acyltrasnferase.

TANGIER'S DISEASE
Defective HDL synthesis.
Elevated cholesterol in tissue and decreased plasma HDL level.

FAMILIAL DYSBETALIPOPROTEINEMIA
Deficiency of Apo E 3.

ABETALIPOPROTEINEMIA
Defective synthesis of Apo B-lipid complex.

Lysosomes have hydrolytic enzymes. When these enzymes decrease, there is an accumulation of sphingolipids and sulfate, etc. these are the Lipid disorders in an enumerated format:

Hunter's
X-linked recessive deficiency of iduronosulfate sulfate.
This causes an increase of dermatan and heparan sulfate.
Causes mental and physical retardation. (No corneal clouding)

Schele's
Autosomal recessive deficiency of α-L-iduronidase.
Causes clouding of the cornea, joint degeneration, and heart disease. These individuals have a normal life expectancy.
Does not cause retardation.

Hurler's
Deficiency of α-L-iduronidase.
Increased dermatan and heparan sulfate.
Causes clouding of the cornea, mental and physical retardation and early death.

Sanfilippo's
Deficiency by Type:
A: N-sulfatase,
B: N-acetylglucosaminidase,
C: N-acetyy CoA: α-glucosamine-acetyltransferase,
D: N-acetyl-α-D-glucosamine-6-sulfatase.
This increases heparan sulfate
Causes severe mental retardation.
Type III mucopolysaccharidosis.

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