untitled
Angel Pictures
 
ANGEL ASHLEY HOLDER
DIED AGE 14 MONTHS
D BI-FUNCTIONAL PROTEIN DEFICIENCY
 
 
3-OXOACYL-COA THIOLASE DEFICIENCY
 
 
WHAT IS 3-OXOACYL-COA THIOLASE DEFICIENCY?
3-oxoacyl-CoA thiolase deficiency syndrome is very rare. it is often called pseudo zellweger because of its similarities to zellweger.
 
CLINICAL FEATURES,
 Abnormal cry/voice, Abnormal rib, Expressionless face, Facial palsy, High vaulted/narrow palate, Hypotonia, Mental retardation(degree not assessed), Seizures
 
TREATMENT
their is no cure, treatment is symptomatic and supportive
 
ACYL-COA OXIDASE DEFICIENCY
 
WHAT IS ACYL-COA OXIDASE DEFICIENCY?
acyl-CoA oxidase deficiency also know as pseudoneonatal adrenoleukodysrtophy is a realtively rare peroxiosmal disorder, there is not much inforamtion to be found.clinical characteristics of this disorder often resemble those in Zellweger syndrome or in the neonatal type of adrenoleukodystrophy.
 
CLINICAL FEATURES
Abnormal liver (including function), cerebral atrophy/myelin abnormality, deafness, sensorineural, enlarged liver, muscle weakness/myopathy
 
TREATMENT
There is no cure and treatment is symptomatic.

D BI-FUNCTIONAL PROTEIN DEFICIENCY
 
WHAT IS D-BIFUNCTIONAL PROTEIN DEFICIENCY
Bifunctional enzyme deficiency was first described in 1989. D bi-finctional protein deficiency is a rare, congenital (present at birth) disorder characterized by a single enzyme defect in peroxisomal assembely.
 
CLINICAL FEATURES
Neurological features include  Hypotonia , Poor suck, Head lag, Absent Moro reflex, Excessive startle, Absent deep tendon reflexes, Seizures, Delayed development, macrocephaly and lukeodystrophy
Other abnormalities include flared ribs, flat chest,  Incomplete eye closure, Expressionless face, tented mouth and High arched palate.
 
WHAT IS THE PROGNOSIS
The prognosis for indviaidauls with d bi-functional protein deficiency is poor, death usualy occurs within the first year of life.
 
TREATMENT
There is no cure for d bi-functional protein deficiency, nor is there a standard course of treatment. Infections should be guarded against to prevent such complications as pneumonia and respiratory distress. Other treatment is symptomatic and supportive
 
 
ANGEL TEAGYN CHACE
10-13-00   1-8-05
D BI-FUNCTIONAL PROTEIN DEFICIENCY
 
 
 
ALLY HOLDER
02-19-04  3-5-05
D BI-FUNCTIONAL PROTEIN DEFICIENCY
 
 
 
 
 
 
 
 
 
 
 
 
 
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