Beruflich Dokumente
Kultur Dokumente
HPI
Y is an 8-year-old Japanese female who presented
with a known diagnosis to our genetics clinic.
Case of YK
Case of YK
Case of YK
Citrin Deficiency
Urea
Gene structure
2)
3)
FTTDCD was recently proposed as a novel postNICCD phenotype (before the onset of CTLN2) by
Song et al in 2011.
Dyslipidemia
Nocturnal delirium
Aberrant behaviors (aggression, irritability, and hyperactivity)
Delusions
Disorientation
Restlessness
Drowsiness
Loss of memory
Flapping tremor
Convulsive seizures
Coma
Pancreatitis
Hyperlipidemia
Fatty liver
Hepatoma
Testing Strategy
Order of testing
1)
2)
3)
4)
Autosomal recessive
No significant correlation exists between the
SLC25A13 mutation types and a decreased
level of hepatic enzyme ASS activity/protein
or age of onset in individuals with CTLN2
For NICCD, the male-to-female ratio is
roughly equal.
For CTLN2, the male-to-female ratio is 2.4 to
1.
Prevalence
Treatment of Manifestations
NICCD
supplementation of fat-soluble vitamins
and use of lactose-free formula (in those
with galactosemia) or formulas
containing medium-chain triglycerides
Treatment of Manifestations
FTTDCD
Very few treatment measures have been
described
Fed according to food preferences (high
protein and lipid diet).
Administration of sodium pyruvate may
be effective in correcting growth
retardation.
Treatment of Manifestations
CTLN2
Most successful therapy has been liver
transplantation.
Administration of arginine has been
reported to be effective in decreasing
the blood ammonia concentration.
Neonatal screening
New research!
References
Happy Holidays!