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NA22581 DNA from LCL

Description:

PROPIONIC ACIDEMIA
PROPIONYL-COA CARBOXYLASE, ALPHA SUBUNIT; PCCA

Affected:

Yes

Sex:

Female

Age:

9 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Quantity 25 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source DNA from LCL
Race White
Family History N
Relation to Proband proband
Confirmation Molecular characterization before cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Clinically affected; no family history; failure to thrive; acute pancreatitis; port-a-cath in place; normal gut motility; fed by G-tube; infrequent vomiting; basal ganglia damage; acute neutropenia; acute anemia; immunodeficiency treated with IVIG; acutely low platelets; broken arm; short stature; began walking at 2 years of age; began talking at 3.5 years of age; language significantly below age level; cognitive ability moderately impaired; episodes of ketoacidosis once a week or more; chronic hyperammonemia <2 times normal; currently on metabolic formula; donor subject is a compound heterozygote: one allele has a 1 bp deletion at nucleotide 418 of the PCCA gene (c.418delC) resulting in a frameshift (H140fs) and the second allele has a 3 bp deletion at nucleotide 1593 in exon 18 (1593_1595delATT) resulting in a frameshift and stop at codon Leu532

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin confirmed by LINE assay
 
Gene PCCA
Chromosomal Location 13q32
Allelic Variant 1 H140fs; PROPIONIC ACIDEMIA
Identified Mutation 418delC
 
Gene PCCA
Chromosomal Location 13q32
Allelic Variant 2 L532del; PROPIONIC ACIDEMIA
Identified Mutation 1593_1595delATT

Phenotypic Data

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Demographic Data
Relation to Proband proband
Age at Sampling 9 YR
Sex Female
Racial Category White
 
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  3.49
Length at birth in cm  53.34
Was child breast-fed? yes   no  unknown 
If yes, duration in months  2 DAYS
Failure to thrive? yes   no  unknown 
Molecular/Enzyme Laboratory Test Results
Which Gene: PCCA? yes   no  unknown 
Which Gene: PCCB? yes  no   unknown 
Mutations Allele 1  418DELC
Mutations Allele 2  1593_1595DELATT
Method (if known)  No Data
Enzyme activity - % of normal  0
Absolute amount  No Data
Family History
Are there other family members with PA? yes  no   unknown 
Number of siblings with PA  No Data
Number of living siblings with PA  No Data
Other affected relatives? yes  no   unknown 
If so, Relationship  No Data
Has the individual passed away? yes  no   unknown 
If yes, age at death  No Data
Clinical Evaluation
Current weight in kgs  24.49
Current height in cms  121.92
Respiratory
Apnea yes  no   unknown 
Tachypnea yes  no   unknown 
Cardiovascular
Cardiomyopathy yes  no   unknown 
If yes, type  No Data
Age at diagnosis of cardiomyopathy  No Data
Age at time of transplant  No Data
Long QT? yes  no   unknown 
If yes, type  No Data
Age at diagnosis of long QT  No Data
Abdominal/Gastrointestinal
Pancreatitis chronic  acute   never noted 
Kidney problems yes  no   unknown 
Liver transplant yes  no   unknown 
If yes, age at transplant  No Data
Port-a-cath currently in place   not currently in place  never had one 
Gut motility normal   slow  requires medication  unknown 
List medications  No Data
Reflux yes  no   unknown 
List medications  No Data
Eating by mouth  0%
Tube fed yes   no  unknown 
If yes, what kind  G-tube
Vomiting  infrequently
Are anti-emetics used for vomiting yes  no   unknown 
List medications  No Data
Neurologic
Basal ganglia damage yes   no  unknown 
If yes, determined by MRI  CT  Other  unknown  
Seizures yes  no   unknown 
If yes, type and frequency  No Data
Autism spectrum disorder yes  no   unknown 
ADD/ADHD yes  no   unknown 
Optic nerve damage yes  no   unknown 
If yes, age at detection  No Data
Neutropenia chronic  acute   unknown 
List medications  No Data
Anemia yes   no  unknown 
If yes, type of anemia  No Data
Immune deficiency yes   no  unknown 
Treated with IVIG yes   no  unknown 
Low platelets chronic  acute   not applicable  unknown 
Asthma yes  no   unknown 
Secondary hip dysplasia yes  no   unknown 
Broken bones yes   no  unknown 
If yes, type of fracture and location  ARM
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  2 YEARS
Language  significantly below age level
Age when first talked  3.5 YEARS
Congitive ability  moderately impaired
IQ known  untested  unsure  
If known, give value or age level  No Data
Metabolic
Is the individual biotin responsive yes  no   unknown 
Episodes of ketoacidosis yes   no  unknown 
If yes, give frequency  once a week or more
Chronic hyperammonemia yes   no  unknown 
Currently elevated  <2 times normal
Is the individual currently on metabolic formula yes   no  unknown 
If yes, which ones Propimex
SHS XMTVI
OA
Pro-phree
PFD
80056
Duocal
Polcyose
Vitaflo
Is the individual taking levocarnitine yes   no  unknown 
If yes, mg/kg  No Data
Other supllements Co-Q10
DHA
Vitamin E
B-6
Biotin
Thiamin
Multi-vitamin
Iron
Other
None
Unknown
Remarks Clinically affected; no family history; failure to thrive; acute pancreatitis; port-a-cath in place; normal gut motility; fed by G-tube; infrequent vomiting; basal ganglia damage; acute neutropenia; acute anemia; immunodeficiency treated with IVIG; acutely low platelets; broken arm; short stature; began walking at 2 years of age; began talking at 3.5 years of age; language significantly below age level; cognitive ability moderately impaired; episodes of ketoacidosis once a week or more; chronic hyperammonemia <2 times normal; currently on metabolic formula; donor subject is a compound heterozygote: one allele has a 1 bp deletion at nucleotide 418 of the PCCA gene (c.418delC) resulting in a frameshift (H140fs) and the second allele has a 3 bp deletion at nucleotide 1593 in exon 18 (1593_1595delATT) resulting in a frameshift and stop at codon Leu532

External Links

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Gene Cards PCCA
Gene Ontology GO:0004658 propionyl-CoA carboxylase activity
GO:0005524 ATP binding
GO:0005739 mitochondrion
GO:0006631 fatty acid metabolism
GO:0008152 metabolism
GO:0009374 biotin binding
GO:0016874 ligase activity
NCBI Gene Gene ID:5095
NCBI GTR 232000 PROPIONYL-CoA CARBOXYLASE, ALPHA SUBUNIT; PCCA
606054 PROPIONIC ACIDEMIA
OMIM 232000 PROPIONYL-CoA CARBOXYLASE, ALPHA SUBUNIT; PCCA
606054 PROPIONIC ACIDEMIA
Omim Description PROPIONIC ACIDEMIA
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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