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NA22703 DNA from LCL

Description:

PROPIONIC ACIDEMIA

Affected:

Yes

Sex:

Male

Age:

6 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 Hispanic/Latino
Ethnicity Hispanic/Latino
Ethnicity SPANISH/MEXICAN
Country of Origin UNITED KINGDOM
Family Member 1
Family History N
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically affected; diagnosed at age 2 weeks; no family history; acute pancreatitis; normal gut motility; g-tube for eating; infrequent vomiting; acute neutropenia; acute low platelets; walked at age 2 years; talked at age 3 years; language significantly below age level; IQ at age 5 years = 96; episodes of ketoacidosis; chronic hyperammonemia with twice normal levels; on metabolic formula and levocarnitine

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin confirmed by LINE assay
 

Phenotypic Data

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Demographic Data
Relation to Proband proband
Age at Sampling 6 YR
Sex Male
Age at Diagnosis(If not a control) 2 WK
Hispanic or Latino/Not Hispanic or Latino Hispanic/Latino
Racial Category Hispanic/Latino
Country UNITED KINGDOM
 
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  4.2
Length at birth in cm  56
Was child breast-fed? yes   no  unknown 
If yes, duration in months  4
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  No Data
Mutations Allele 2  No Data
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? yes  no   unknown 
If yes, age at death  No Data
Clinical Evaluation
Current weight in kgs  25
Current height in cms  114
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  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  2 YRS
Language  significantly below age level
Age when first talked  3 YRS
Congitive ability  age appropriate
IQ known   untested  unsure 
If known, give value or age level  96 - 5 YRS
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  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; diagnosed at age 2 weeks; no family history; acute pancreatitis; normal gut motility; g-tube for eating; infrequent vomiting; acute neutropenia; acute low platelets; walked at age 2 years; talked at age 3 years; language significantly below age level; IQ at age 5 years = 96; episodes of ketoacidosis; chronic hyperammonemia with twice normal levels; on metabolic formula and levocarnitine

External Links

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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
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