Metabolic Disorders

Question 1

This is the most common inborn error of methionine metabolism where in there is a deficiency of cystathionine B-synthase

Answer 1

Homocystinuria

Question 2

Clinical features of homocystinuria

Answer 2

Marfanoid body habitus
Ectopia lentis
Developmental delay
Thromboembolism

Question 3

Diagnosis for homocystinuria

Answer 3

Increased homocysteine
Increased methionine
Decrease cysteine

Question 4

X linked recessive inheritance

Answer 4

Ornithine transcarbamylase

Question 5

Conversion of ammonia to carbamoyl phosphate is done by

Answer 5

Carbamoyl synthase 1 with N-acetylglutamate

Question 6

Disorders of ammonia disposal; inherited enzymatic deficiency in the urea cycle

Answer 6

N-acetylglutamate synthase
Ornithine carbamoyl phosphate
Argininosuccinate acid synthase
Argininosuccinate acid lyase
Arginase

Question 7

2 most common deficiency in US

Answer 7

Ornithine carbamoyl phosphate

Argininosuccinate acid lyase

Question 8

Gene that encodes for transporter of cysteine

Answer 8

CTNS gene

Question 9

Transporter of cysteine

Answer 9

Cystinosin

Question 10

Essential amino acid and the precursor for nicotinic acid (niacin) and serotonin

Answer 10

Tryptophan

Question 11

Defect in transport of monoamino-monocarboxylic amino acids

Answer 11

Hartnup disease

Question 12

Clinical manifestations of hartnup disease

Answer 12

Pellagra like symptoms