BIOCHEM LEC - Clinical Correlation

Clinical Correlation

• Bridges theoretical knowledge with practical application in healthcare.

• Helps in understanding physiological processes and how deviations lead to disease.

• Aims to link biochemical pathways to clinical manifestations.

Aminoacidopathies

• Inherited (at birth) metabolic disorders caused by enzyme defects that prevent proper amino acid metabolism.

• Effects:

  • Buildup of toxic amino acids or their by-products in the blood.

• Examples:

  1. Phenylketonuria (PKU)

  2. Maple Syrup Urine Disorder (MSUD)

  3. Alkaptonuria (Black Urine Disease)

Phenylketonuria (PKU)

Enzyme Deficiency:

• Phenylalanine hydroxylase (PAH)

Converts phenylalanine to tyrosine

Symptoms:

• Musty Odor

• Mental Retardation

• Growth Failure

• Seizures

• Tremors

Avoid:

• Aspartame; as it converts to phenylalanine

Maple Syrup Urine Disease (MSUD)

Enzyme Deficiency:

• Branched-chain α-ketoacid dehydrogenase

• Accumulation of leucine, isoleucine, valine, and their ketoacids

Symptoms:

• Maple syrup/Burnt sugar odor in urine, breath, skin

Alkaptonuria (Black Urine Disease)

Enzyme Deficiency:

• Homogentisic acid oxidase

Leads to buildup of homogentisic acid

Symptoms:

• Black-colored urine

• Ochronosis (dark pigmentation of cartilage and skin)

• Joint issues

Collagenopathies

• Group of rare disorders affecting connective tissues, mainly due to collagen defects.

• Effects:

  • Joint Laxity

  • Arterial Weaknesses

  • Hemorrhages

  • Scoliosis

• Example:

  • Scurvy

Scurvy

Cause:

• Vitamin C Deficiency

• Ascorbic Acid Deficiency

Enzyme Impairment:

• Prolyl hydroxylase

• lysyl hydroxylase (Vitamin C-dependent)

Symptoms:

• Sore Gums

• Loose Teeth

• Fragile Blood Vessels

• Swollen Joints

• Anemia

Hemoglobinopathies

• Genetic (or inherited) disorders involving abnormal hemoglobin synthesis or structure.

• Example:

  • Sickle-Cell Anemia (Hemoglobin S Disease)

Sickle-Cell Anemia (Hemoglobin S Disease)

Mutation in HBB gene

Valine substitutes for glutamic acid in the β-chain of hemoglobin A

Symptoms:

• Anemia

• Mild Jaundice

• Joint Pain

• Breathlessness

• Fever

• Fatigue