This case document summarizes the history, examination findings, investigations and diagnosis of an 18-month-old child presenting with persistent vomiting, failure to thrive, and developmental delay. Key test results revealed elevated tyrosine levels, abnormal urine organic acids, and elevated alpha-fetoprotein consistent with a diagnosis of Tyrosinemia Type 1. The child was placed on a low-protein diet avoiding tyrosine and phenylalanine to manage this inherited metabolic disorder.

1. -Dr. Varun .G. Bansal
T.N. Medical college & B.Y.L. Nair Ch. Hospital

2. CASE HISTORY
18 months old Mch Born of non consanguinous marriage Hindu by
religion, hailing from M.P. was brought with complaints –
 Vomiting since Day 5 of life
 Failure To Thrive since 3 months of age.
 No significant Antenatal events.
 No significant primary / secondary high-risk factors
 3 Abortions- 2 in second and 1 in first Trimester.
 Full-term normal vaginal hospital delivery , CIAB
Birth weight-2.5 kg.
Baby was exclusively breast fed .

3.  Vomiting since day 5- intermittent, non-bilious, non-projectile,
not a/w abdominal distension, jaundice , hematemesis or malena
(to r/o GI cause)
 No h/o Umbilical sepsis or catheterization
No NICU stay.
 Received symptomatic treatment- however ineffective &
symptoms persisted.
 Failure To Thrive since 3 months of age. So mother started
complementary feeding with buffalo’s milk .
 No h/o bottle-feeding.

4.  No h/o Oliguria/ Polyuria / bony deformities.
(to r/o RTA)
 Baby was alert and playful. No h/o lethargy / altered sensorium /
convulsion / refusal of feeds.
(to r/o Intracranial pathology)
 No h/o Hyperpigmentation of genitalia/ state of crisis /shock
req. ICU stay ( to r/o salt-losing CAH)
 No h/o any abnormal specific urine odour or colour.
 No h/o similar illness in any other family member.

5.  Admitted at Hospital in Indore at 5 months of age for 5 days .
Symptoms subsided for a few days.
 Poor follow-up but readmitted in the same hospital for similar
symptoms at 7 months of age.
 No Vomiting since 10 months of age, but still Failing to thrive.
 H/o developmental delay +
 Motor & Mental age of 8-9 months
 Diet History : Consumes predominantly mother’s milk.
Diet deficient in 600 kcal and 5 gm. proteins

6. IMPRESSION (on history)-
18 months old Mch born to mother with bad obstetric history
has
 Persistent vomiting since the fifth Day of life
 Failure To Thrive
 Global Developmental Delay to rule out-
Metabolic cause-
 IEM
 Renal Tubular Acidosis
 Milder variety of salt losing Congenital Adrenal Hyperplasia

7. On examination-
 Vitals stable.
 BP at 50th centile
 Weight for age- below 2 SD,
 Height for age- below 2SD,
 Head circumference below 3 SD
 Pallor +, Icterus absent. No facial dysmorphism.
 AF closed, no s/s of Vitamin deficiency, No cataract, Fundus NAD.
 No e/o neurocutaneous markers. Prominent gluteal folds .

8. Systemic examination :
 P/A- Distended with prominent veins.
Liver – 3cms, firm consistency.
Spleen - 2 cms. & non-tender.
Kidneys non ballotable.
No free fluid.
 RS- NAD.
 CVS- NAD.
 CNS- NAD.

9. Provisional Diagnosis –
Patient was a 18 month old M/ch presenting with-
 Hepato-splenomegaly
 Microcephaly
 Global Developmental Delay
 Failure to thrive and
 Grade 3 PEM (IAP) to r/o
Metabolic liver disease ( ? Galactosemia/ ? Tyrosinemia /
? Fructosemia)

10. Investigations
5 Months 7 months 18 months
SGPT (5-40 U/L) 42 - 56
SGOT (5-40 U/L) 68 - 30
T. Bili ( D/ I) 0.5 - 1.6 (0.5/1.1)
Alk Phos (40-270 U/L) 9520 7620 2825
Prot / Alb -/- -/- 6.5 / 3.7
PT (13) / INR -/- 120 / 14 38 / 5.5
APTT (36) - 117 -
S. Ca / Po4 8/2 -/- 8.9 / 1.6

11. Investigations (contd)
5 months 7 months 18 months
Na / K / Cl 136 / 3.9 / 110 - 134 / 4.2 / 107
BUN / Creat 16 / 0.7 - 14 / 0.9
PH 7.36 - 7.39
PCO2 38 - 36
PO2 87 - 84
HCO3 21 - 23
P . Ammonia ? ? 116 (27-102)
URINE
Odour - - -
Reducing sugars ++ ++ ++
Ketones - - -
Phosphorous - - 18.9 (0.4-4)

12. Investigations (contd)
 CMV IgG +ve , IgM -ve (Mother’s CMV IgG +ve)
 HIV, HbsAg, Anti-HCV- Negative
 USG Abdo- Chronic liver disease with portal hypertension
Borderline splenomegaly.
Bilateral bright kidneys Grade 2 echogenicity
 Gastrograffin study revealed dilatation of the lower end of
esophagus with uncoordinated propulsive movements. No GER.

13. To summarize-
18 month old M/ch with history and findings s/o IEM-
 Normal Plasma ammonia
 No acidosis on the blood gas
 Chronic liver disease with portal hypertension
 Deranged coagulation profile
 Hypophosphatemia & Phosphaturia
 Positive urinary reducing sugars
 No ketonuria

14. How did we go about it…

15.  GALT assay (Galactosyl 1-phosphate uridyltransferase) :
20U/g Hb. (15 – 35)
 Plasma amino-acidogram/ Urine amino-acidogram-
spot of elevated intensity in Tyrosine region.
 Alpha- Fetoproteins – 26000 ng / ml (0- 13.4).
 Urinary Succinyl-Acetone , 4- Hydroxyl Phenyl Pyruvate, 4-
Hydroxy Phenyl Lactate & 4- Hydroxyl Phenyl Acetate Levels
were Significantly Elevated.

16. Urine organic acid profile-Healthy Control

17. Urine organic acid profile- chromatogram (Patient)

18. Urine organic acid profile- (Patient)

19. Conclusion
The patient’s history with examination findings of
 Hepato-splenomegaly,
 Failure To Thrive,
 Global Developmental Delay,
 Elevated Alpha- Fetoproteins,
 Elevated Tyrosinemia Spot Intensity on UAA/PAA,
 Urine Phosphaturia with Hypophosphatemia &
 Significantly Elevated Urinary Succinyl-Acetone levels
clinched the diagnosis of Tyrosinemia Type1.

20. Diet in Tyrosinemia
Foodstuffs rich in Foodstuffs poor in
Tyrosine- Tyrosine-
1) Milk (casein) 1) Fruits-
2) Soy protein  Grapes,
3) Cheese  Apple,
 Watermelon,
4) Peanuts  Figs,
5) Cashewnuts  Banana,
6) Almonds  Strawberry,
7) Walnuts  Pineapple
8) Chicken
2) Onion
9) Egg Yolk 3) Carrots,
10) Whole Pea 4) Potato, Sweet Potato
11) Wheat Germ 5) Cabbage
12) Whole Mung Beans 6) Spinach
7) Rice

21. Various Formula Preparations for Tyrosinemia
1) Milupa- TYR 1- Mix 2) XPTM ( Tyrosidon)
 Tyrosine and Phenyl-alanine
• Tyrosine, Phenyl-alanine and
free infant formula
Methionine free formula
 Sucrose free
 Energy :386 kcal
 With Prebiotics  Proteins : 77 gms

22. 3) TYROS 1 ( Mead Johnson 4) TYREX-1 ( Abott
Nutrition) Nutrition)
Free from Phenyl-alanine,  Phenyl-alanine and Tyrosine
Tyrosine, Lactose, Gluten and free formula
Galactose.
 Energy : 480 kcal
Energy : 500 kcal
 Proteins : 15 gms
Proteins : 16.7 gms.

23. “A person who never made a
mistake never tried anything
new”
- Albert Einstein