1) A 1.5 year old boy presented with recurrent episodes of intense vomiting followed by respiratory distress and lethargy, always preceded by fever. 2) Between episodes he was completely normal. Investigations during an episode revealed hypoglycemia, metabolic acidosis, and ketones in urine. 3) Urine organic acid analysis found increased methylhydroxy butyric acid, acetoacetic acid and other organic acids, leading to a diagnosis of an organic aciduria due to beta ketothiolase deficiency.

1. Recurrent Vomiting
Presenter :
Vibhor Borkar - SGPGI, Lucknow
Moderator:
Ujjal Poddar - Pediatric Gastroenterologist, SGPGI, Lucknow
Panelists:
Priya Kishnani – Pediatrician & Geneticist,
Duke University, North Carolina, USA
John Matthai – Pediatric Gastroenterologist,
PSG Inst. of Medl Sciences, Coimbatore
Archana Kher – Pediatrician,
Columbia Asia, Pune

2. Recurrent Vomiting
Dr Vibhor Borkar
Senior Resident (DM)
Department of Pediatric Gastroenterology,
Sanjay Gandhi Postgraduate Institute of Medical Sciences,
Lucknow, India.

3. 1 ½ yr boy, brought with complaints of:
• 4 discrete episodes of intense vomiting
followed by respiratory distress and lethargy
• Always preceded by febrile illness
• In-between completely normal

4. Boy 1 ½ year
Born out of 3rd consanguinous marriage
Developmentally normal
Asymptomatic in between
No regression of mile stones
Lethargy
IV fluids
IV fluids
Lethargy
Vomiting
(8-10/day,
non-bilious)
Vomiting
Asymptomatic
Fever
Feb 2013
2- 3 days
2- 3 days
April 2013

5. No f/h/o seizures, migraine
Contd……
GTCs- 3 times
Acidotic
breathing
IV fluids
Bicarbonate
Antibiotics
CSF analysis- Normal
Na, Cal,
Hypoglycemia
Urine Ketones - positive
Vomiting
Lethargy
Fever
June 2013
2- 3 days
Asymptomatic
SGPGI
IV fluids
Acidotic
breathing
Fever
Vomiting,
Lethargy
November 2013

6. 10 yr
•MR
•Short stature
•Obesity

7. Examination
• Lethargic
• RR: 42/ min, no
retractions
• HR: 180/ min, feeble
pulses
• Cold extremities,
• Delayed CFT
• No pallor, icterus,
cyanosis, clubbing, edema
Observe Expecte %centil
d
d
e
Weight
10kg
11 kg
25th
Height
80 cm
84 cm
50th
OFC
47 cm
48 cm
25-50th
No facial dysmorphism
Anterior and posterior fontanellesclosed
No h/o any specific body odor

8. Examination contd…
P
A
7 cm
4 cm
• CNS: Lethargic
Pupils 3 mm equal size
and reacting to light.
Muscle tone- normal.
Deep tendon reflexes: 2+,
No s/o meningitis
• CVS: Normal
• RS: Normal.

9. Possibilities ?
Cyclical vomiting syndrome
Inborn error of metabolism:
Urea cycle defects
Organic acidurias
Respiratory chain defects
Fatty acid oxidation defects
Malrotation of gut with intermittent volvulus

11. Possibilities?
➢ Some transaminitis
➢ Normal serum ammonia
➢ Hypoglycemia with ketonuria
➢ Metabolic acidosis with high anion gap
➢ High serum lactate

12. Other Investigations
• CBC: normal
• CSF analysis (June 2013): Normal
• Urine GCMS- Increased secretion of methylhydroxy
butyric acid, acetoacetic acid and other organic
acids.
• Urine amino acids: Normal.
• Carnitine / Acyl carnitine profile- normal.
Liver biopsy: Focal steatosis, mild mononuclear cells infiltrates

13. Possibilities?
❖ Fatty acid oxidation defect/urea cycle defect
vs.
❖ Organic aciduria
➢Hypoglycemia but no ketonuria with high ammonia
vs.
➢Hypoglycemia with ketonuria, high anion gap
metabolic acidosis

14. Final diagnosis
Organic aciduriaHigh anion gap metabolic acidosis
❖ Increased lactate
❖ Hypoglycemia
❖ Ketonuria
❖ Normal blood ammonia
❖ Increased organic acids in urine
❖ Normal carnitine profile
❖
❖
Steatosis on liver biopsy

15. Organic acidemia
Condition
Urine Ammonia
ketones
Lactate
Glucose
Propionic
acidemia
Very High
(>100µM)
normal
High/Nl/
Low
++++ (Massive)
Methylmalonenic
acidemia
Isovaleric
acidemia
Carboxylase
deficiency
++
High
Very High
normal
HMG CoA Lyase
def
Absent
High/Nl
High
Low
Beta ketothiolase
def
++
High/Nl
normal
Low

16. Final diagnosis
Organic aciduria--- ?
Beta ketothiolase deficiency