Alkaptonuria and Metabolic Disorders

Dr. Mungi explains inborn errors of metabolism, focusing on alkaptonuria, a disorder caused by homogentisate oxidase deficiency. The video covers symptoms, diagnosis, and the tyrosine catabolism process. Alkaptonuria leads to pigmentation and arthritis, with higher prevalence in Slovakia and the Dominican Republic.

Who is considered the father of inborn errors of metabolism?

• Louis Pasteur

• Dr. Mungi

• Archal Gard

• Gregor Mendel

What is a common visual sign of the disorder discussed in the video?

• Yellowing of the eyes

• Greenish tint in hair

• Bluish black pigmentation in ear lobules

• Red spots on the skin

Which enzyme deficiency is responsible for alkaptonuria?

• Tyrosinase

• Homogentisate oxidase

• Dihydropterin reductase

• Phenylalanine hydroxylase

What is the role of tyrosine transaminase in tyrosine catabolism?

• Converts tyrosine to homogentisate

• Converts tyrosine to p-hydroxyphenylpyruvate

• Converts tyrosine to fumarate

• Converts tyrosine to acetoacetate

What is ochronosis?

• A type of arthritis

• A dietary deficiency

• A sign of alkaptonuria involving pigmentation

• A genetic mutation

Which country is known for a higher prevalence of alkaptonuria?

• India

• Slovakia

• Australia

• United States

What happens to homogentisate in the absence of homogentisate oxidase?

• It is converted to tyrosine

• It is excreted unchanged

• It accumulates and causes pigmentation

• It is converted to glucose

What is the earliest sign of alkaptonuria in infants?

• Excessive crying

• Delayed growth

• Bluish black staining of diapers

• Frequent infections

What is the genetic inheritance pattern of alkaptonuria?

• Mitochondrial

• Autosomal dominant

• X-linked recessive

• Autosomal recessive

What is the significance of ochronotic arthritis in alkaptonuria?

• It indicates a new mutation

• It is a common early symptom

• It is unrelated to the disorder

• It occurs due to joint pigmentation