| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
30 MO |
| Sex |
Male |
| Hispanic or Latino/Not Hispanic or Latino |
Hispanic/Latino |
| Racial Category |
Hispanic/Latino |
| |
| 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 |
3.23 |
| Was child breast-fed? |
yes no unknown |
| 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 |
IVS21+3DEL4 |
| Mutations Allele 2 |
R243C |
| Enzyme activity - % of normal |
5 |
| 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 |
13.8 |
| Current height in cms |
95.5 |
| 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 |
| 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 |
100% of the time |
| Age when first walked |
15 MONTHS |
| Language |
slightly below age level |
| Age when first talked |
20 MONTHS |
| 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 |
|
| Is the individual taking levocarnitine |
yes no unknown |
| If yes, mg/kg |
150 |
| Other supllements |
|
| Remarks |
Clinically affected; newborn screened; eating by mouth; seizures; walked at 15 months of age; talked at 20 months of age; on metabolic formula and levocarnitine; donor subject is a compound heterozygote: one allele has a 4 bp deletion at nucleotide 1824+3 in intron 21 of the PCCA gene(IVS21+3del4) resulting in the skipping of intron 21 and the second allele has a substitution of cysteine for arginine at codon 243 [Arg243Cys (R243C)] |