| 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 |
| Enzyme activity - % of normal |
0 |
| Family History |
| Are there other family members with PA? |
yes no unknown |
| Other affected relatives? |
yes no unknown |
| Has the individual passed away? |
yes no unknown |
| 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 |
| 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 |
infrequently |
| Are anti-emetics used for vomiting |
yes no unknown |
| Neurologic |
| Basal ganglia damage |
yes no unknown |
| If yes, determined by |
MRI CT Other unknown |
| 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 |
| 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 |
| 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
Pro-phree
Duocal
|
| Is the individual taking levocarnitine |
yes no unknown |
| Other supllements |
|
| 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 |