| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
8 WK |
| Sex |
Male |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| 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 |
3.09 |
| Length at birth in cm |
50.17 |
| Was child breast-fed? |
yes no unknown |
| If yes, duration in months |
VERY LITTLE BEFORE HOSPITALIZATION |
| 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 |
C.1218DEL14INS12 |
| Mutations Allele 2 |
C.1218DEL14INS12 |
| 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 |
No Data |
| Current height in cms |
No Data |
| 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 |
100% |
| Tube fed |
yes no unknown |
| If yes, what kind |
No Data |
| Vomiting |
No Data |
| Are anti-emetics used for vomiting |
No Data |
| 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 |
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 |
No Data |
| Short stature |
yes no unknown |
| Growth hormone treatment |
yes no unknown |
| Osteoporosis |
yes no unknown |
| Developmental Evaluation |
| Walking |
No Data |
| Age when first walked |
No Data |
| Language |
No Data |
| Age when first talked |
No Data |
| Congitive ability |
No Data |
| 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 |
No Data |
| 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; diagnosed by newborn screening; hospitalized for decreased feeding; low muscle tone, hypothermia, severe hyperammonemia and metabolic acidosis; markedly elevated propionic acid metabolites by urine organic acid analysis; no family history; on levocarnitine; donor subject is homozygous for a 14 bp deletion and a 12 bp insertion at nucleotide 1218 in exon 12 of the PCCB gene [c.1218_1231delinsTAGAGCACAGGA (c.1218del14ins12)] resulting in a frameshift and stop codon at Gly406 (Gly406fs) |