| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
5 MO |
| 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 |
yes no unknown |
| Weight at birth in kgs |
3.1 |
| Length at birth in cm |
50 |
| Was child breast-fed? |
yes no unknown |
| If yes, duration in months |
1 WEEK |
| 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 |
1606A>G |
| Mutations Allele 2 |
1209+2DELT |
| 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 |
6.35 |
| Current height in cms |
61.5 |
| 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 |
100% |
| Tube fed |
yes no unknown |
| Vomiting |
infrequently |
| Are anti-emetics used for vomiting |
yes no unknown |
| 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 |
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 |
| Short stature |
yes no unknown |
| Growth hormone treatment |
yes no unknown |
| Osteoporosis |
yes no unknown |
| Developmental Evaluation |
| Walking |
not at all |
| Language |
age appropriate |
| Congitive ability |
age appropriate |
| IQ |
known untested unsure |
| Metabolic |
| Is the individual biotin responsive |
yes no unknown |
| Episodes of ketoacidosis |
yes no unknown |
| Chronic hyperammonemia |
yes no unknown |
| Is the individual currently on metabolic formula |
yes no unknown |
| If yes, which ones |
SHS XMTVI
|
| Is the individual taking levocarnitine |
yes no unknown |
| If yes, mg/kg |
100 |
| Other supllements |
|
| Remarks |
Clinically affected; diagnosed by newborn screen; no family history; normal gut motility; eating by mouth; acute neutropenia; on metabolic formula and levocarnitine; donor subject is a compound heterozygote: one allele has an A>G transition at nucleotide 1606 in exon 15 of the PCCB gene (c.1606A>G) resulting in the substitution of aspartic acid for asparagine at codon 536 [Asn536Asp (N536D)] and the second allele has a 1 bp deletion (1209+2delT) |