Question

Deficiencies of carnitine, carnitine acyltransferases, or carnitine/acylcarnitine translocase affect the metabolism of long‑chain fatty acids. Many of the symptoms are similar, and include hypoketotic hypoglycemia, low ketone levels and low blood sugar with fasting, and damage to the liver, heart, or muscles due to fatty acid buildup in those tissues. Symptom severity varies with the form of the deficiency. The following abbreviations are used: carnitine acyltransferase (carnitine palmitoyltransferase), CPT and carnitine/acylcarnitine translocase, CACT.

Identify each symptom or effect as a deficiency of CPT I, CPT II, or CACT?

Answer 1

CPT-1 deficiency can cause:

Symptoms of low blood sugar (hypoglycemia)

Liver problems, such as an enlarged organ

Damage to the nervous system, caused by liver (liver) problems

Coma and sudden death

Heart failure

CPT-2 deficiency can affect each person differently, depending on how well the CPT-2 protein is working. Symptoms can be mild to severe. For certain periods, people with this deficiency may not have any symptoms. Very serious forms can affect newborns or babies. These are rarer.

The myopathic form of CPT2 deficiency causes milder symptoms. It does not cause heart or liver problems. People with this form generally have a normal life expectancy. Symptoms can start at any time up to age 60. They can appear if you skip meals, exercise a lot, or get sick. Symptoms may include:

Symptoms of low blood sugar (hypoglycemia)

Temporary muscle pain

Muscle damage

Muscular weakness

Dark urine

So, it can be said that the myopathic form is the least severe and is characterized by recurrent episodes of rhabdomyolysis, muscle pain and weakness triggered by prolonged physical exercise, fasting, viral illness or extreme temperatures. The severe infantile form is characterized by severe intolerance to fasting, leading to metabolic disorders such as hypoketotic hypoglycemia and hepatic encephalopathy. The neonatal lethal form presents with symptoms of the infantile form as well as dysmorphic manifestations (eg, cystic renal dysplasia).

Step-by-step explanation:

Carnitine palmitoyltransferase (CPT) deficiency is a rare condition that causes muscle weakness and other symptoms. It occurs due to a problem with one or two enzymes, CPT1 or CPT2.