| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
7 YR |
| Sex |
Male |
| Age of Onset(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 |
No Data |
| Weight at birth in kgs |
4.025 |
| Length at birth in cm |
55 |
| 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 |
G216FS |
| Mutations Allele 2 |
G216FS |
| Enzyme activity - % of normal |
0 |
| Absolute amount |
NOT DETECTABLE |
| Family History |
| Are there other family members with PA? |
yes no unknown |
| Other affected relatives? |
yes no unknown |
| Has the individual passed away? |
No Data |
| Clinical Evaluation |
| Current weight in kgs |
30.2 |
| Current height in cms |
120 |
| 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 |
once a week 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 |
SEIZURES AT BIRTH CRISIS ONLY |
| 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 |
20 MONTHS |
| Language |
uses assistive technology (device, PECS or sign) |
| Congitive ability |
moderately impaired |
| IQ |
known untested unsure |
| If known, give value or age level |
41 |
| Metabolic |
| Is the individual biotin responsive |
yes no unknown |
| Episodes of ketoacidosis |
yes no unknown |
| Chronic hyperammonemia |
yes no unknown |
| Currently elevated |
<2 times normal |
| Is the individual currently on metabolic formula |
yes no unknown |
| If yes, which ones |
SHS XMTVI
PFD
|
| Is the individual taking levocarnitine |
yes no unknown |
| Other supllements |
Co-Q10
DHA
Vitamin E
Biotin
|
| Remarks |
Clinically affected; diagnosed in first week of life; no family history of PA; acute pancreatitis; normal gut motility; G-tube for 100% of feeding; vomitting at least once a week; had seizures only during birth crisis; chronic neutropenia; immune deficiency; first walked at 20 months of age; uses assisting language technology; moderately impaired cognitive ability; IQ of 41; chronic hyperammonemia (<2 times normal); currently on metabolic formula and levocarnitine; donor subject is homozygous for a G216fs mutation in exon 8 of the PCCA gene |