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What is Carnitine Palmitoyltransferase 1A Deficiency?

Carnitine Palmitoyltransferase 1A deficiency or CPT 1A deficiency is a condition where the nervous system is damaged, along with an almost simultaneous failure of the liver. It is usually related to periods of fasting or illness and inhibits the body from using fats to release energy, especially in periods when the body is fasting. This condition is linked to genetic factors and is usually experienced first in childhood.

What are its main signs and symptoms?

Symptoms can be classified into 3 types:

In children:

In adults:

  • Muscle cramping, especially during or after exercise with no signs of liver problems or blood sugar issues

In pregnant women:

What are its main causes?

This is an inherited disorder, where the recessive gene is carried by both parents and passed on to the child. A child carrying only one mutated gene will be a carrier but will manifest no symptoms. It is experienced in males and females equally.

How is it diagnosed and treated?

The following diagnostic methods are used for CPT 1A:

  • Observation of physical symptoms
  • Tests for ketone levels, liver function and ammonia
  • Skin tests for enzyme activity
  • Plasma and serum testing

The key to treating CPT 1A is to ensure avoidance of hypoglycaemia (low blood sugar) in the patient. This can be done by ensuring frequent meals, diets low in fat and high in carbohydrates and a monitored diet plan. In case the patient does suffer acute hypoglycaemia, an intravenous dose of dextrose should be administered immediately.

Women who have the deficiency should be explained possible obstetric complications in advance and should have a carefully monitored pregnancy. Keeping chocolates and candies with you can help in case of a sudden drop in blood glucose levels.

  1. Medicines for Carnitine Palmitoyltransferase 1A Deficiency

Medicines for Carnitine Palmitoyltransferase 1A Deficiency

Medicines listed below are available for Carnitine Palmitoyltransferase 1A Deficiency. Please note that you should not take any medicines without doctor consultation. Taking any medicine without doctor's consultation can cause serious problems.

Medicine NamePack SizePrice (Rs.)
AcylcarAcylcar Tablet95.0
CarnimacCarnimac 500 Mg Tablet178.0
CarnisureCarnisure 1000 Mg Injection193.0
CarnitorCarnitor 500 Mg Tablet275.0
ElkarElkar 500 Mg Tablet100.0
LacarnitLacarnit 330 Tablet152.0
LevocarnilLevocarnil 500 Tablet281.0
NucarnitNucarnit 1 Gm Injection161.0
ReeRee 1 Gm Injection161.0
VernaceVernace 500 Mg Tablet100.0
CarnilevCarnilev 1 Gm Injection100.0
CarnimedCarnimed 500 Mg Tablet157.0
Carnisure ACarnisure A 500 Mg Tablet80.0
CarnivalCarnival Capsule116.0
DruvitDruvit 500 Mg Tablet102.0
IndformIndform 500 Mg Tablet250.0
LcarproLcarpro Tablet175.0
LencarLencar 500 Mg Tablet155.0
OxyastaOxyasta Tablet175.0
RecarnitRecarnit 1 Gm Injection130.0
SpermotilSpermotil Capsule179.0
B Fit(Dr.Johns Lab)B Fit Tablet150.0
ConzoConzo Tablet450.0
ExartExart Tablet65.0
K TorK Tor 500 Mg Tablet186.0
LevineLevine Tablet25.0
Bluray MBluray M Tablet280.0
FerteezFerteez Tablet348.0
Paternia XtPaternia Xt Tablet373.0
Hope MHope M Tablet250.0
Maxoza LMaxoza L Sachet40.0
Maxnuron PgMaxnuron Pg Tablet310.0
UbicarUbicar 30 Mg/500 Mg Tablet348.0
Evion LCEvion Lc Tablet32.2

Do you or anyone in your family have this disease? Please do a survey and help others

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