| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
5 YR |
| Sex |
Female |
| Age at Diagnosis(If not a control) |
1 WK |
| 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 |
2.52 |
| Length at birth in cm |
47 |
| Was child breast-fed? |
yes no unknown |
| If yes, duration in months |
No Data |
| 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? |
No Data |
| If yes, age at death |
No Data |
| Clinical Evaluation |
| Current weight in kgs |
24.7 |
| Current height in cms |
106 |
| 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 |
chronic acute |
| Age at diagnosis of long QT |
5 YRS |
| 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 |
REGLAN, MIRALAX |
| Reflux |
yes no unknown |
| List medications |
PREVACID, CARAFATE |
| Eating by mouth |
1-50% |
| Tube fed |
yes no unknown |
| If yes, what kind |
G-tube |
| Vomiting |
once a month or more |
| Are anti-emetics used for vomiting |
yes no unknown |
| List medications |
ZOFRAN |
| 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 |
NEUPOGEN |
| 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 |
PROXIMAL RT FIBULA/DISTAL RT RADIUS |
| 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 |
18 MONTHS |
| Language |
slightly below age level |
| Age when first talked |
2 YRS |
| Congitive ability |
age appropriate |
| 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 |
once a month or more |
| 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 |
81 |
| Other supllements |
Co-Q10
DHA
Vitamin E
B-6
Biotin
Thiamin
Multi-vitamin
Iron
Other
None
Unknown
|
| Remarks |
Clinically affected; diagnosed at age 1 week by newborn screening; failure to thrive; no family history; apnea; chronic long QT diagnosed at age 5 years; gut motility is slow; gastroesophageal reflux; 50% fed by mouth; G-tube; vomiting once a month or more; acute neutropenia; acute anemia; immune deficiency; acute low platelets; asthma; broken bones: nondisplaced proximal right fibula and distal right radius; short stature; first walked at 18 months of age; language is slightly below age level; talked at 2 years of age; age appropriate cognitive ability; episodes of ketoacidosis once a month or more; on metabolic formula and levocarnitine; hypothyroid; esophagitis; fibroblast carboxylases results: propionyl-CoA carboxylase (PCC) 21 pmol/min/mg protein (normal range is 91-500), 3-methylcrotonyl-CoA carboxylase (MCC) 136 pmol/min/mg protein (normal range is 31-220), and pyruvate carboxylase (PC) 305 pmol/min/mg protein (normal range is 71-370); donor subject is homozygous for a 2 bp deletion at nucleotide 1172 in exon 11 of the PCCB gene (c.1172_1173delTT) |