inborn errors of amino acid metabolism

Question 1

• deficiency of an enzyme called aspartylglucosaminadase

- mental retardation

Answer 1

Aspartylglucosaminuria

Question 2

= autosomal recessive
= defect in the conversion of methylmalonyl coenzyme A ( CoA) to succinyl CoA
= seizure, encephalopathy and stroke

Answer 2

Methylmalonic acidemia

Question 3

= enzyme defect ( leucine, isoleucine & valine)

=maple syrup ( burn sugar)

Answer 3

Maple Syrup Urine Disease ( MSUD)

Question 4

• recessive condition
• defect in enzyme homogentisate 1-2 dioxygenase (degradation of tyrosine)= phenylalanine
• toxic tyrosine byproduct= homogentisic acid
  
  • –> causing damage to cartilage, heat valves and makes kidney stones

Answer 4

Alkaptonuria ( Black Urine Disease)

Question 5

• An autosomal recessive trait
• metabolism, amino acid methionine involving cystathionine beta synthase
• disorder of the connective tissue, muscles , CNS and cardiovascular system
• homocysteine in the serum = urine

Answer 5

Homocystinuria ( Cystathionine beta synthase( CBS) deficiency)

Question 6

1. error of metabolism in the amino acid tyrosine
2. most severe form of tyrosinemia = deficiency in fumarylacetoacetate hydrolase
3. .autosomal recessive = calluses ( hands and feet)

4.deficiency in hydroxyphenylpyruvate dioxygenase
tyrosine byproduct ( 4 hydroxyphenylpyruvate) ------> homogentisic acid
= deficiency in tyrosine aminotransferase

Answer 6

1. Tyrosinemia
2. type 1 ( hepatorenal tyrosinemia)
3. type 2 ( oculocutaneous tyrosinemia)
4. type 3