Inborn Error Of Metabolism

Question 1

Fetal Hydantoin syndrome

Answer 1

PHC

P- hypoplastic phalanges
H- small head
C- cleft palate/ lip

Question 2

Fetal alcohol syndrome

Answer 2

Small eyes
Thin lips
Long , smooth filter
Increase risk of congenital heart defect

Question 3

Fetal alcohol syndrome

Answer 3

Small eyes
Thin lips
Long , smooth filter
Increase risk of congenital heart defect

Question 4

Mc Lysosomal storage disease in children

Answer 4

Gaucher disease

Question 5

Which enzyme is deficient in Gaucher disease ?

Answer 5

Glucocerebrosidase enzyme

Question 6

Crumpled/ wrinkled tissue paper apperance seen in !?

Answer 6

Gaucher disease

Question 7

Gaucher cell are ……….

Answer 7

Lipid Laden macrophages

Question 8

Erlenmeyer flask deformity is feature of !?

Answer 8

Gaucher disease

Question 9

MC enzyme deficient in the Niemann pick disease??

Answer 9

Sphingomyelinase

Question 10

Cherry red spot in macula is seen !?

Answer 10

Not to Games

N - Niemann puck disease
T- Tay sachs disease
G- Gml gangliosidosis

Question 11

Angiokeratomas seen in ?

Answer 11

Fabry’s disease

Question 12

MC enzyme deficient in Fabry’s disease!?

Answer 12

Alpha galactosidase deficiency

Question 13

Gene involved in Menke disease !?

Answer 13

ATP7A gene

Question 14

A child with KINKY Hair + seizures + developmental delay + hypopigmentation!?

Answer 14

Menke disease

Question 15

Mc enzyme deficient in Lesch Nyhan disease !?

Answer 15

HGPRT ( hypoxanthine Guanine phospho-ribosyl transferase)

Question 16

Child with developmental delay + self mutilating ( self injury) died at 3 year of age what is the Dx?

Answer 16

Lesch Nyhan Disease

Question 17

Drug can be given in LSCH NYHAan disease ?

Answer 17

In lysch nyhan disease- increased level of uric acid

Allopurinol

Question 18

Child born normally with well developed milestone upto 1 year of age suddenly Regression of milestones + Hand wringing movements + Ataxic gait

What is the dx!?

Gene involved !?

Answer 18

Rett’s syndrome

MECP-2 gene

Question 19

Bird Headed dwarfism + Beak like nose

What is the dx !?

Answer 19

Seckel syndrome

Question 20

Mc used Screening tests for metabolic disorder!?

Answer 20

TMS ( Tandem Mass spectrometry) - dried blood used

Question 21

Enzyme deficiency in Phenylketonuria !?

Which amino acid deficient in PKU!?

Answer 21

Phenylalanine hydroxylase

Tyrosine

Question 22

Child with blonde hair + fair skin + blue eyes + hypertonia + Intellectual disability

What is the dx!?

Answer 22

Phenylketonuria

Question 23

Mousy Or musty urine color !?

Answer 23

PKU

Question 24

Guthrie test

Answer 24

Biological assay for PKU

Question 25

TOC IN PKU !?

Answer 25

Low phenylalanine diet with TYROSINE supplementation

Question 26

Darkening of urine on standing + Dark spots on sclera & ear cartilage! What is dx!?

Answer 26

Alkaptonuria

Question 27

MC enzyme deficient in Alkaptonuria!?

Answer 27

Homogentisic Acid oxidase

Question 28

Mc enzyme deficient in HOMOCYSTINURIA !?

Answer 28

Cystathionine- beta synthase

Question 29

Child with marfan habitus + subluxation of lens + recurrent stroke !?

Answer 29

HOMOCYSTINURIA

Question 30

IN Homocystinuria subluxation of lens ………

Answer 30

Infero- medial

Question 31

In marfan syndrome subluxation of lens of eye …..,,

Answer 31

MSL Marfan - Supero - lateral

Question 32

Tryptophan metabolism affected in which disorder !?

Answer 32

Hartnup disorder

Question 33

Gene mutated in Hartnup disorder !?

Answer 33

SLC6A19 gene

Question 34

Pellagra like rash ( casal’s necklace ) + photosensitivity Dx !?

Answer 34

Hartnup disorder Mostly asymptomatic

Question 35

MC enzyme deficient in TYPE 1 Tyrosinemia !?

Answer 35

Fumarate acetoacetate hydrolase ( FAH)

Question 36

Infant presenting with hepatomegaly + jaundice + Bleeding manifestation Dx !?

Answer 36

Type -1 tyrosinemia

Question 37

Doc for TYPE- 1 TYrosinemia !?

Answer 37

Nitisinone

Question 38

Gene mutated in Wilson disease!?

Answer 38

ATP 7B

Question 39

Branched chain amino acids ( isoleucine , Leucine , & valine ) affected in

Answer 39

Maple syrup urine disease

Question 40

Mc enzyme deficient in Maple syrup urine disease!?

Answer 40

Alpha ketoacid dehydrogenase

Question 41

Burnt sugar / maple syrup odour from body fluid

Answer 41

MSUD

Question 42

Burnt sugar / maple syrup odour from body fluid

Answer 42

MSUD

Question 43

MC enzyme deficient in case of Hereditary Fructose intolerance!?

Answer 43

Aldolase B

Question 44

H/o of fruits intolerance + present of reducing substance in urine Dx!?

Answer 44

Hereditary fructose intolerance

Question 45

Mc enzyme deficient in Galactosemia!?

Answer 45

Galactose-1- phosphate uridyl transferase

Question 46

Cataract is the main manifestation of …….

Answer 46

Galactokinase deficiency D/t accumulation of Galactitol

Question 47

Breastfeeding is c/I in……

Answer 47

Galactosemia

Question 48

Mc GSD in children!?

Answer 48

Von Giereke disease

Question 49

Mc GSD in adolescents & Adults

Answer 49

Mc Ardle’s disease

Question 50

Child + recurrent hypoglycemia + doll like facies + hepatomegly

Answer 50

Von gierek disease

Question 51

CPK level elevated in type ……..

Answer 51

Type 3 GSD

Question 52

Child + Hypotonia + myocardial dysfunction Dx !?

Answer 52

Pompe disease