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Surgery > Inborn Error Of Metabolism > Flashcards

Inborn Error Of Metabolism Flashcards

1
Q

Fetal Hydantoin syndrome

A

PHC

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

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2
Q

Fetal alcohol syndrome

A

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

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3
Q

Fetal alcohol syndrome

A

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

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4
Q

Mc Lysosomal storage disease in children

A

Gaucher disease

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5
Q

Which enzyme is deficient in Gaucher disease ?

A

Glucocerebrosidase enzyme

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6
Q

Crumpled/ wrinkled tissue paper apperance seen in !?

A

Gaucher disease

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7
Q

Gaucher cell are ……….

A

Lipid Laden macrophages

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8
Q

Erlenmeyer flask deformity is feature of !?

A

Gaucher disease

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9
Q

MC enzyme deficient in the Niemann pick disease??

A

Sphingomyelinase

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10
Q

Cherry red spot in macula is seen !?

A

Not to Games

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

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11
Q

Angiokeratomas seen in ?

A

Fabry’s disease

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12
Q

MC enzyme deficient in Fabry’s disease!?

A

Alpha galactosidase deficiency

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13
Q

Gene involved in Menke disease !?

A

ATP7A gene

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14
Q

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

A

Menke disease

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15
Q

Mc enzyme deficient in Lesch Nyhan disease !?

A

HGPRT ( hypoxanthine Guanine phospho-ribosyl transferase)

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16
Q

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

A

Lesch Nyhan Disease

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17
Q

Drug can be given in LSCH NYHAan disease ?

A

In lysch nyhan disease- increased level of uric acid

Allopurinol

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18
Q

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 !?

A

Rett’s syndrome

MECP-2 gene

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19
Q

Bird Headed dwarfism + Beak like nose

What is the dx !?

A

Seckel syndrome

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20
Q

Mc used Screening tests for metabolic disorder!?

A

TMS ( Tandem Mass spectrometry) - dried blood used

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21
Q

Enzyme deficiency in Phenylketonuria !?

Which amino acid deficient in PKU!?

A

Phenylalanine hydroxylase

Tyrosine

22
Q

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

What is the dx!?

A

Phenylketonuria

23
Q

Mousy Or musty urine color !?

A

PKU

24
Q

Guthrie test

A

Biological assay for PKU

25
Q

TOC IN PKU !?

A

Low phenylalanine diet with TYROSINE supplementation

26
Q

Darkening of urine on standing + Dark spots on sclera & ear cartilage!

What is dx!?

A

Alkaptonuria

27
Q

MC enzyme deficient in Alkaptonuria!?

A

Homogentisic Acid oxidase

28
Q

Mc enzyme deficient in HOMOCYSTINURIA !?

A

Cystathionine- beta synthase

29
Q

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

A

HOMOCYSTINURIA

30
Q

IN Homocystinuria subluxation of lens ………

A

Infero- medial

31
Q

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

A

MSL

Marfan - Supero - lateral

32
Q

Tryptophan metabolism affected in which disorder !?

A

Hartnup disorder

33
Q

Gene mutated in Hartnup disorder !?

A

SLC6A19 gene

34
Q

Pellagra like rash ( casal’s necklace ) + photosensitivity

Dx !?

A

Hartnup disorder

Mostly asymptomatic

35
Q

MC enzyme deficient in TYPE 1 Tyrosinemia !?

A

Fumarate acetoacetate hydrolase ( FAH)

36
Q

Infant presenting with hepatomegaly + jaundice + Bleeding manifestation

Dx !?

A

Type -1 tyrosinemia

37
Q

Doc for TYPE- 1 TYrosinemia !?

A

Nitisinone

38
Q

Gene mutated in Wilson disease!?

A

ATP 7B

39
Q

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

A

Maple syrup urine disease

40
Q

Mc enzyme deficient in Maple syrup urine disease!?

A

Alpha ketoacid dehydrogenase

41
Q

Burnt sugar / maple syrup odour from body fluid

A

MSUD

42
Q

Burnt sugar / maple syrup odour from body fluid

A

MSUD

43
Q

MC enzyme deficient in case of Hereditary Fructose intolerance!?

A

Aldolase B

44
Q

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

Dx!?

A

Hereditary fructose intolerance

45
Q

Mc enzyme deficient in Galactosemia!?

A

Galactose-1- phosphate uridyl transferase

46
Q

Cataract is the main manifestation of …….

A

Galactokinase deficiency

D/t accumulation of Galactitol

47
Q

Breastfeeding is c/I in……

A

Galactosemia

48
Q

Mc GSD in children!?

A

Von Giereke disease

49
Q

Mc GSD in adolescents & Adults

A

Mc Ardle’s disease

50
Q

Child + recurrent hypoglycemia + doll like facies + hepatomegly

A

Von gierek disease

51
Q

CPK level elevated in type ……..

A

Type 3 GSD

52
Q

Child + Hypotonia + myocardial dysfunction

Dx !?

A

Pompe disease

Surgery (8 decks)

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