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Copy of Copy of Déficit de L-Carnitina

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Maria Rodriguez

on 30 April 2014

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Transcript of Copy of Copy of Déficit de L-Carnitina


Fifth grade- "Cupeyville School".
Tests measuring the amounts of lactic acid and pyruvic acid:
 Muscle weakness
 Start walking different
 He fell a lot
Shows loss of correct posture

Oxidative metabolic disorder attention deficit.

His have a secondary disorder:
His body does not produce enough L-carnitine
Deficit of this amino acid.

 He's a smart guy.
He get good grades in school and also perform other activities such as practice karate and play guitar.
Character changes
Social immaturity
Difficulty adjusting
to changes
Attention Deficit
Writing problems, coordination and balance

It is preferable to start early to prevent development of the disease and the physical and mental deterioration. Because if it is not treated at time this deficit can cause mitochondrial dementia is a condition similar to Alzheimer's.

Avoid prolonged fasting and overloading of physical exercise to avoid hypoglycemia and muscle weakness.

Administer oral carnitine supplementation.
Sometimes steroids provide benefits.

Neftalí has also had to take speech and occupational therapy.

María de L. Rodríguez Guzmán, Ph.D Ingrid Montes González
Department of Chemistry
University of Puerto Rico, Río Piedras Campus

The child has a quantity and strict diet of organic food and gluten free.

It is important to mention that the mother of Neftalí also has the condition. The disease was intermittent and over a period of anxiety and stress it was activated.

What are the causes?

Since it is a metabolic myopathy may have clinical or genetic origin and may be produced by:
Deficit-palmitoyl transferase enzyme Carnitil (CPT II).
Impaired synthesis or absorption of L-Carnitine.
Excessive requirement of L-Carnitine in the body.

Medical Intervention

Children Living with inherited Metabolic diseases – United Kingdom
Fatty Oxidation Disorders – United States - Michigan
Support Group - Association of Volunteers
March of Dimes Birth Defects Foundation

 Intervention of agencies
Intervention of psychologists, psychiatrists and social workers
Geneticists are currently the most updated information on this condition, since it was recently discovered and pediatricians and neurologists usually do not know much about it.
To maintain self-esteem and social development
To help handle situations in their environment, their character, their diet and behavior.
It is suspected by the clinical manifestations but need further testing as:
Muscle biopsy
Measure odds of lactic and pyruvic acid in blood.
It is better to discover this disease at an early age is why it is advisable to perform an expanded newborn screening (screening)
It takes the child at birth by a blood test.

Oral supplement carnitine Levocarnitine

Depending on the sequel to conditions arising from the disease, will be required to take additional drugs that the pacient

The incidence of primary carnitine deficiency in the general population is approximately 1 in 100,000 newborns.

In Japan, this is more common disorder affecting 1 in every 40,000 newborns.

In the United States, no studies about the Primary carnitine deficiency has been able to estimate its impact, but it is believed to be similar to that of Japan.

  In Australia, the incidence has been estimated 1:37,000-1:100,000 newborns.

The frequency of this condition in adults is not known, although in the UK in April affected mothers identified in 62,004 infants studied, with a frequency of 1:15,500.

Theoretical Analysis

Do you know anyone who has or is likely to suffer from this disease Deficit L-Carnitine?
Do you consider that there may be many more cases of this disease on the island?
Do you think there should be government assistance to treat the condition and the development of support groups for patients and families, whether government or private here in Puerto Rico?
Do you consider the condition discover radically changes the course of life of patients?
Theoretical Analysis
What is primary carnitine deficiency?

Primary carnitine deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy.
Primary carnitine deficiency is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations
How do people inherit primary carnitine deficiency?
Carnitine (B-hydroxy-y-trimethylammonium butyrate) is a hydrophilic molecule that plays an essential role in the transfer of long-chain fatty acids inside mitochondria for oxidation. Carnitine binds acyl residues and help in their elimination.

Carnitine binds acyl residues and help in their elimination.

The average adult diet provides about 75% of daily carnitine requirements, mostly from meat and dairy products
Primary Carnitine Deficiency
Primary carnitine deficiency is an autosomal recessive disorder of fatty acid oxidation due to the lack of functional OCTN2 carnitine transporters.

Patients with primary carnitine deficiency lose most (90-95%) of the filtered carnitine in urine and their heterozygous parents lose 2 to 3 times the normal amount, explaining their mildly reduced plasma carnitine levels
Theoretical Analysis
Expansion of newborn screening programs to identify disorders of fatty acid oxidation and the carnitine cycle poses new challenges for the medical practitioner and for the clinical geneticist. Among disorders of the carnitine cycle, primary carnitine deficiency responds extremely well to therapy with carnitine supplements.

Low Carnitine can be identified on newborn screening collected 1-2 days after birth.

The carnitine deficiency is a rare condition, which particularly affects young children and if it not treated at time, a gradual decline was observed in the patient, this condition is degenerative.
The L-carnitine is an essential molecule for fat burning.
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