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search submit
GM22124
LCL
from
B-Lymphocyte
Description:
PROPIONIC ACIDEMIA
Affected:
Yes
Sex:
Female
Age:
8
YR
(At Sampling)
Sample Description
Overview
Characterizations
Phenotypic Data
External Links
Culture Protocols
Overview
Repository
NIGMS Human Genetic Cell Repository
Subcollection
Heritable Diseases
Biopsy Source
Peripheral vein
Cell Type
B-Lymphocyte
Tissue Type
Blood
Transformant
Epstein-Barr Virus
Sample Source
LCL from B-Lymphocyte
Race
Filipino
Family Member
2
Relation to Proband
sister
Confirmation
Clinical summary/Case history
Species
Homo
sapiens
Common Name
Human
Remarks
Clinically affected; affected sister is GM22123; moderate cardiomyopathy; normal gut motility; no eating by mouth; g-tube; vomiting once a month or more; short stature; walked at age 18 months; language significantly below age level; first talked at age 4 years; cognitive ability moderately impaired; episodes of ketoacidosis; on metabolic formula and levocarnitine
Characterizations
IDENTIFICATION OF SPECIES OF ORIGIN
Species of Origin Confirmed by LINE assay
Phenotypic Data
Demographic Data
Relation to Proband
sister
Age at Sampling
8 YR
Sex
Female
Age at Diagnosis(If not a control)
17 FW
Racial Category
Filipino
Data Elements
Clinical Element Type: Propionic Acidemia
(Baseline)
Neonatal Data
Was this child newborn screened?
yes
no
unknown
If yes, was the result prior to hospitalization
No Data
Weight at birth in kgs
4
Length at birth in cm
53
Was child breast-fed?
yes
no
unknown
If yes, duration in months
3 MONTHS
Failure to thrive?
yes
no
unknown
Molecular/Enzyme Laboratory Test Results
Which Gene: PCCA?
yes
no
unknown
Which Gene: PCCB?
yes
no
unknown
Family History
Are there other family members with PA?
yes
no
unknown
Number of siblings with PA
ONE
Number of living siblings with PA
ONE
Other affected relatives?
yes
no
unknown
Has the individual passed away?
yes
no
unknown
Clinical Evaluation
Current weight in kgs
28.6
Current height in cms
121
Respiratory
Apnea
yes
no
unknown
Tachypnea
yes
no
unknown
Cardiovascular
Cardiomyopathy
yes
no
unknown
If yes, type
moderate
Age at diagnosis of cardiomyopathy
3 YR
Long QT?
yes
no
unknown
If yes, type
No Data
Abdominal/Gastrointestinal
Pancreatitis
chronic
acute
never noted
Kidney problems
yes
no
unknown
Liver transplant
yes
no
unknown
Port-a-cath
currently in place
not currently in place
never had one
Gut motility
normal
slow
requires medication
unknown
Reflux
yes
no
unknown
Eating by mouth
0%
Tube fed
yes
no
unknown
If yes, what kind
G-tube
Vomiting
once a week or more
Are anti-emetics used for vomiting
yes
no
unknown
List medications
ONDANSETRON
Neurologic
Basal ganglia damage
yes
no
unknown
If yes, determined by
No Data
Seizures
yes
no
unknown
Autism spectrum disorder
yes
no
unknown
ADD/ADHD
yes
no
unknown
Optic nerve damage
yes
no
unknown
Neutropenia
chronic
acute
unknown
Anemia
yes
no
unknown
Immune deficiency
yes
no
unknown
Treated with IVIG
No Data
Low platelets
chronic
acute
not applicable
unknown
Asthma
yes
no
unknown
Secondary hip dysplasia
yes
no
unknown
Broken bones
yes
no
unknown
Short stature
yes
no
unknown
Growth hormone treatment
yes
no
unknown
Osteoporosis
yes
no
unknown
Developmental Evaluation
Walking
100% of the time
Age when first walked
18 MONTHS
Language
significantly below age level
Age when first talked
4 YEARS
Congitive ability
moderately impaired
IQ
known
untested
unsure
Metabolic
Is the individual biotin responsive
yes
no
unknown
Episodes of ketoacidosis
yes
no
unknown
If yes, give frequency
once a month or more
Chronic hyperammonemia
yes
no
unknown
Is the individual currently on metabolic formula
yes
no
unknown
If yes, which ones
Propimex
Pro-phree
Polcyose
Is the individual taking levocarnitine
yes
no
unknown
If yes, mg/kg
7200MG/DAY
Other supllements
Co-Q10
Thiamin
Iron
Remarks
Clinically affected; affected sister is GM22123; moderate cardiomyopathy; normal gut motility; no eating by mouth; g-tube; vomiting once a month or more; short stature; walked at age 18 months; language significantly below age level; first talked at age 4 years; cognitive ability moderately impaired; episodes of ketoacidosis; on metabolic formula and levocarnitine
External Links
NCBI GTR
606054 PROPIONIC ACIDEMIA
OMIM
606054 PROPIONIC ACIDEMIA
Omim Description
PROPIONIC ACIDEMIA
Culture Protocols
Split Ratio
1:5
Temperature
37 C
Percent CO2
5%
Percent O2
AMBIENT
Medium
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Serum
15% fetal bovine serum Not Inactivated
Substrate
None specified
Subcultivation Method
dilution - add fresh medium
Supplement
-
Pricing
Commercial/For-profit:
$311.00
USD
Academic/Non-profit/Government:
$176.00
USD
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