GALACTOSEMIA: A VARIANT OF MILK INTOLERANCE IN PEDIATRIC CASES

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galactosemia, homeopathyAbstract: The article deals with the very common complaint ‘milk intolerance in infant ’ in a different approach of pediatric medicine as an autosomal recessive disorder ‘Galactosemia’ and its clinical features, diagnostic and probable homoeopathic treatment procedures with fruitful outcome in affected cases.

Introduction:

‘Classic’ galactosemia (absence of the galactose-1-phosphate uridyl transferase enzyme) is a serious disease with early onset of symptoms and the incidence is 1/60,000 live birth. Milk and dairy products contain lactose, the major dietary source of galactose. The metabolism of galactose produces fuel for cellular metabolism through its conversion to glucose-1-phosphate. Galactose also plays an important role in the formation of galactosides, which include glycoproteins, glycolipids, and glycosaminoglycans (1).

Galactosemia denotes the elevated level of galactose in the blood and is found in three distinct disorders of galactose metabolism defective in one of the following enzymes: galactose-1-phosphate uridyl transferase, galactokinase, and uridine diphosphate galactose-4-epimerase (1). Galactose metabolism disorder is schematically represented in ‘Fig. 1’ (2).

Figure 1

Clinical Features: (1, 3)

The diagnosis of uridyl transferase deficiency should be considered in new born or young infants with any of the following features are noticed:

Patients appear normal at birth, but by 3- 4 days of breast milk or formula feeding show life threatening disease with vomiting, diarrhoea, poor weight gain, predominant hepatic and renal manifestations etc.Patients with this disease are at increased risk for Escherichia coli neonatal sepsis. When the diagnosis is not made at birth, damage to liver and brain becomes increasingly sever and irreversible.

Jaundice and liver dysfunction are progressive and appear at the end of first or during second week of life.

  • Abdomen: Hepatomegaly, hepatic cirrhosis (in maltreated or delayed diagnosed cases), splenomegaly, ascites.
  • Milestones: Delayed speech problem.
  • Mental retardation.
  • Central Nervous System: Convulsions, lethargy and unsteady gait.
  • Eye: Cataract and vitreous haemorrhage.
  • Skin: Yellowish discolouration (Jaundice).

Diagnosis: (1, 3, 4)

At first the new-borns are properly screened before in vitro diagnosis by the help of above mentioned signs and symptoms. The diagnosis is confirmed by either enzyme or specific mutational analysis. In case of suspected galactosemia:

  • The urine should be tested simultaneously with Benedict reagent and by glucose oxidase method. The urine specimen is to be collect while the infant is receiving milk (mother’s; cow’s or any formula containing lactose). This test is only used for screening purpose.
  • Blood sample is taken as a heel prick test. The drop of blood from the patient’s heel is dried and checked for the ‘galactose-1-phosphate uridyl transferase’ (GALT) enzyme.
  • Blood sample is also sent for bilirubin (all counterparts) and glucose.
  • The level of galactose and GALT in the blood can also be checked.
  • Genetic testing might be done in searching for mutations in the gene responsible for GALT enzyme for confirmatory diagnosis.

Homoeopathic treatment:

Homoeopathic treatment is based upon individualisation. But ‘knowledge of disease’ is essential to rule out the ‘incurable’ from ‘curable’ one. A thorough case taking and analysis is very much essential in this context. We have to know all details about family, ante and peri-natal history; personal relationship between parents along with all signs and symptoms for individualisation purpose.

I have prepared a table of Repertorisation (Done by ‘Synthesis 9.0’ Using ‘Radar 10.5.003’) only by taking the common symptoms and signs and have tried to make a chart of a group of medicines which will help us to think at a glance about the therapeutics of galactosemic child.

glalactosemia

We can prescribe first 15 to 20 medicines (Sep, Mag C, Calc C, Sil, Sulph, Ars, Aeth, Lyc, Phos, Chin, Iod, Nux M, Zinc, etc), upon the constitutional basis and differentiate each other by strong general symptoms and peculiarities presented by cross referencing materia medica.

Reviews of some old homoeopathic literatures:

I have collected some reviews on the very few medicines which are come into the above repertorial analysis sheet, from old homoeopathic journals.

  • Homeopathy- Volume: VII; May; 1938: (5)

Use of ‘Sulphur’ in ‘acute catarrhal jaundice’ of children where milk- intolerance is much dominant symptom to prescribe.

  • The Homoeopathic Recorder- Volume: LXIV; January; 1949: (6)

William B. Griggs discussed about ‘Aethusa cynapium’ about milk intolerance in child.

  • The Homeopathic Herald- Volume: VI; March; 1945: (7)

Discussing on ‘Magnesia carbonica’ on ‘intolerance of milk in child’ keeping the guideline of D. M. Borland in “Children Type” with some cured cases.

Outcome:

Early diagnosis and treatment have improved the prognosis of galactosemia; however, on long term follow up, patients still manifest ‘ovarian failure’ with ‘primary or secondary amenorrhoea’, developmental delay, and learning disabilities that increase in severity with age. The relative control of galactose-1-phosphate levels does not always correlate with long term outcome, leading to the belief that other factors, such as elevated galactitol (see Fig. 1), decreased UDP-galactose and endogenous galactose production may be responsible (1).

So, homoeopathically we have not only to consider the symptomatology but have to know the proper knowledge of time to refer the case.

Conclusion:

Because of new born screening for galactosemia, patients are being identified and treated early. Elimination of galactose from diet reverses growth failure, renal and hepatic dysfunction. So, the symptom “Intolerance of milk: Cannot bear milk in any form(8) will be a valuable one if we shall penetrate our clinical vision deep into the diagnostic approach. What is important is to provide the proper treatment in proper time so that it can prevent both the acute and chronic adverse outcomes.

References:

  • Chen YT. In: Jenson HB. Nelson Textbook of Pediatrics. (Ed: Behrman RE, Kliegman RM), 17th New Delhi: Elsevier, a division of Reed Elsevier India Private Ltd.; 2004: 475- 476.
  • Internet Source: (visited on- 16. O4. 2015) http://www.peds.ufl.edu/divisions/genetics/_style/images/Metabolic%20diagrams/galactose-path-diag.jpg
  • Gupta N, Kabra M. In: Ghai Essential Pediatrics. (Ed: Paul VK, Bagga A), 8th New Delhi: CBS Publ, 2013: 655 – 656.
  • Kulkarni ML. In: IAP Text Book of Pediatrics. (Ed: Parthasarathy A.), 2nd New Deldi: Jaypee Brothers Medical Publishers (P) Ltd.; 2002: 661- 662.
  • Borland DM. Children Type. (Ed: Tyler ML). May; 1938: VII.
  • Griggs WB. The Homoeopathic Recorder. January; 1949: LXIV.
  • Borland DM. Children Type. The Homeopathic Herald. (Ed: Bose NC). March; 1945: VI.
  • Allen HC. Aethusa Cynapium: Keynotes Rearranged and Classified with Leading Remedies of the Materia Medica and Bowel Nosodes. 3rd New Delhi: B. Jain Publ. (P) Ltd, 2004.

Authors:

Dr Sourindranath Paik   and Dr Amitava Samanta 
Dept. of Case Taking and Repertory, National Institute of Homoeopathy, Kolkata.

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