Two unrelated 15-year-old Hispanic boys have a new form of CPT II deficiency, say researchers at Children’s Hospital in Orange County California.
Both boys developed diabetic ketoacidosis, malignant
hyperthermia, rhabdomyolysis and cardiac arrest after a two week history of illness. One boy was successfully resuscitated. The other died from multi-system organ failure. Autopsy revealed
pancreatitis and cirrhosis.
Residual levels of CPT II were at 10% in muscle for both boys, but neither carried the common
S113L mutation in the CPT2 gene.
Reference: D DiPaula et al. at the ASHG 1999 meeting. |
 |
|
An Inuit woman in the Canadian
arctic who developed
acute fatty liver during her first pregnancy was found to
carry the hepatic form of CPT
I deficiency.
Both of her children were later found to be L-CPT I
deficient.
This is the first case of L-CPT I deficiency presenting as
liver disease during pregnancy.
The details of this case are presented in an interactive tutorial
written by Marcel Blanchaer, M.D., Professor
Emeritus of Biochemistry at the University of Manitoba.
Includes detailed diagrams and explanations of fat metabolism.
Reference: Pediatr
Res
2000 47(1):43-5 |
|
|
More than 150 patients have
been reported with the muscular form of CPT II deficiency, say
researchers in Paris, France.
In a review article, Bonnefont et al. also note that L-CPT
I deficiency has been reported in 16 patients from 13
families, while the infantile form of CPT II deficiency has
been reported in 10 patients from 10 different
families.
In addition, the neonatal form of CPT II deficiency—which
is usually fatal in the first month of life—has been
reported in 13 patients from 12 different families.
Reference: Mol
Gen Metab 1999
68(4):424-40 |
|
To read about fourteen atypical cases
of CPT deficiency, visit Same
difference. To
read more personal case histories, visit Mailbox
and First-person patient
stories.
To read more about CPT
deficiency in infants, visit Family
matters and Sooner
or later. |
|
|
|
A
sixteen-year-old weight-lifter in Pennsylvania was
diagnosed with a partial CPT II deficiency after
rhabdomyolysis and myoglobinuria triggered by a respiratory
infection.
He was treated with IV fluids and released after 7 days.
The patient had a similar episode 2 years earlier.
Conclusion: CPT II deficiency can cause non-exercise
induced muscle breakdown. Annual influenza
vaccination recommended.
Reference: J
Sports Med Phys Fitness 1998 38(2):177-9
|
|
|
A married couple in France
who are first cousins requested DNA analysis of the fetus
during a second pregnancy. Their first child had died suddenly
of CPT II deficiency at the age of 22 months.
Genomic DNA from a chorion villus sampling revealed the
fetus was heterozygous (a carrier) for CPT II deficiency. The parents
elected not to terminate the pregnancy.
This is the first known report of prenatal DNA diagnosis of
CPT II deficiency.
Reference: Thuiller
et al. at the ASHG 1999 meeting.
Related links:
Prenatal
genetic testing spurs fear of eugenics Extensive feature article from GeneLetter that
covers many aspects of this complicated issue.
|
|
|
Three brothers in England with
CPT deficiency contacted us, noting that they experienced a
combined 120 years of symptoms before getting a diagnosis.
Significant others:
An 18-year-old woman in Israel
whose CK hit 98,000 after an appendectomy.
A man in Poland who was recently diagnosed with the
help of our web site.
A 30-year-old man in the
Netherlands who
survived CK levels of 526,000.
A 21-year-old university student in the Republic
of Macedonia. |
|
