• A 2 year old male baby is presented with history of frequent episode of vomiting, lethargy, restlessness

and aversion to protein containing food. On examination baby was lethargic and mentally retarded.

• Blood investigation revealed the following

• Ammonia level in the blood 567 micromol/L ( normal is 25 to 100 micromol/L)

• Urine shows excretion of orotic acid. Orotic acid and creatinine ratio was 5.7 mmol/mol ( normal is 1.0
to 3.5 mmol/mol)

q) What may be enzyme deficiency in this child?

a) Carbamoyl phosphate synthetase I

b) Carbamoyl phosphate synthetase II

c) Arginase

d) Ornithine transcarbamoylase
Enzyme deficiency Disorder Inheritance Clinical presentation
CPS I deficiency Hyperammonemia type I AR Raised ammonia in blood Lethargy, coma,
aversion to protein containing food.

OTC deficiency Hyperammonemia type II XR** Raised ammonia in blood Lethargy, coma,
aversion to protein containing food.

Ornithine Hyperammonemia AR Raised ammonia in blood Lethargy, coma,

carier[ORNT1] Defect aversion to protein containing food.
Hyperornithemia
homocitrullinemia
Arginisuccinate Citrullinemia type I AR Raised ammonia in blood Lethargy, coma,
synthetase deficiency aversion to protein containing food , liver failure

Citrin* deficiency Citrullinemia type II AR Jaundice in neonate, stupor, coma in adults

Arginosuccinate lyase Arginosuccinic acidemia / AR Raised ammonia in blood Lethargy, coma,
deficiency arginosuccinateuria aversion to protein containing food.
Trichorrhexis nodosa
Arginase Hyperarginemia AR Microcephaly, low IQ, Spastic tetraparesis
NAG synthetase Very rare AR Raised ammonia in blood Lethargy, coma,
deficiency aversion to protein containing food.
Case 2
2 year old child presented to hospital with history of generalized fits. Baby was born full term by normal
vaginal delivery (NVD) without forceps application. On examination baby had delayed milestone and was
lethargic, hair was grey coloured and skin was light coloured. Mother gave the history of mousy odour in
the urine.

Chemical responsible for mousy odour urine

a) Phenyllactate
b) Phenylacetate
c) Phenylpyruvate
d) phenylbutyrate
Case 3
• A 12 year old girl presents with history of one episode of generalised fits and repeated episodes of red scaly skin
rashes for past 2 year. She was born at full term with normal milestones to a non consanguineous parents. She
also has history of psychotic behaviour and difficulty in walking for past six months.

• Urinary investigation by chromatography revealed presence of multiple neutral amino acid and presence of
Indican in the urine.

Defective metabolism of which of the following amino acid is responsible for these symptoms?

a) Tryptophan

b) Tyrosine

c) Alanine

d) glycine
Case 4
• A 17 year old male is admitted to medicine department with history of bizzare behaviour, episodes of crying
and screaming. On examination he had tremors in hand, incoordinated limb movements, dysarthria and
dysphagia was observed.

• On visual examination his eyes showed golden brown ring around corneal rim which was confirmed as KF
ring[ Kayser Fleischer ring] on slit lamp examination.

• Following were biochemical findings:

• Serum ceruloplamin: 12 mg/dl( normal level is 18-35 mg/dl)

• Urinary copper(24 hr collection): 270 µg(normal is 20-50 µg)

• Copper content in liver(biopsy): 300 µg/g of tissue( normal level is 20-50 µg/g)
Which of the following may be defective

a) Copper binding ATPase 7A

b) Copper binding ATPase 7B
c) Apoceruloplasmin gene
d) Transferrin gene
• A six year old male child of a painter was brought to pediatric OPD by mother with history of repeated attack of

abdominal pain, irritability and constipation for past 2 months. On examination child was anemic and irritable and

lacked attention.

• Blood investigation revealed following result

• Hb: 8 gram/dl

• Blood lactate level 45 mg/dl

•
• Peripheral smear: microcytic hypochromic anemia with basophilic stippling of RBC
What is the enzyme responsible for plumboporphyria?
a) ALA Synthase
b) ALA Dehydratase
c) PBG Deaminase
d) Ferrochelatase