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NA22025 DNA from LCL

Description:

PROPIONIC ACIDEMIA

Affected:

Yes

Sex:

Male

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 Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically affected; failure to thrive; normal gut motility; 50% of feeding by mouth; G-tube; infrequent vomitting; seizures; began walking at 18 months of age and is still walking; language is significantly below age level; uses language assisting technology; talked at age two years; cognitive ability moderately impaired; infrequent episodes of ketoacidosis; on metabolic formula and levocarnitine; donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 335 in exon 3 of the PCCB gene (c.335G>A) resulting in the substitution of aspartic acid for glycine at codon 112 [Gly112Asp (G112D)] and the second allele has a 1 bp deletion at nucleotide 1204 in exon 12 (1204delG) resulting in a frameshift and stop codon at Ala402 (Ala402fs)

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin confirmed by LINE assay
 
Gene PCCB
Chromosomal Location 3q21-q22
Allelic Variant 1 G112D; PROPIONIC ACIDEMIA
Identified Mutation GLY112ASP
 
Gene PCCB
Chromosomal Location 3q21-q22
Allelic Variant 2 Ala402fs; PROPIONIC ACIDEMIA
Identified Mutation 1204delG

Phenotypic Data

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Demographic Data
Relation to Proband proband
Age at Sampling 9 YR
Sex Male
Age at Diagnosis(If not a control) 1 WK
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 yes  no   unknown 
Weight at birth in kgs  No Data
Length at birth in cm  No Data
Was child breast-fed? yes   no  unknown 
If yes, duration in months  2 DAYS ONLY
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  335G>A
Mutations Allele 2  1204DELG
Method (if known)  No Data
Enzyme activity - % of normal  No Data
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?  No Data
If yes, age at death  No Data
Clinical Evaluation
Current weight in kgs  35.6
Current height in cms  127
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  1-50%
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  No Data
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  No Data
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  No Data
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  uses assistive technology (device, PECS or sign)
Age when first talked  2 YRS
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  infrequently
Chronic hyperammonemia yes  no  unknown  
Currently elevated  No Data
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; failure to thrive; normal gut motility; 50% of feeding by mouth; G-tube; infrequent vomitting; seizures; began walking at 18 months of age and is still walking; language is significantly below age level; uses language assisting technology; talked at age two years; cognitive ability moderately impaired; infrequent episodes of ketoacidosis; on metabolic formula and levocarnitine; donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 335 in exon 3 of the PCCB gene (c.335G>A) resulting in the substitution of aspartic acid for glycine at codon 112 [Gly112Asp (G112D)] and the second allele has a 1 bp deletion at nucleotide 1204 in exon 12 (1204delG) resulting in a frameshift and stop codon at Ala402 (Ala402fs)

External Links

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GEO GEO Accession No: GSM1050475
GEO Accession No: GSM1050476
NCBI GTR 606054 PROPIONIC ACIDEMIA
OMIM 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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How to Order
  • Ordering Instructions
  • MTA / Assurance Form
  • Statement of Research Intent Form
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