| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
10 YR |
| Sex |
Female |
| Age at Diagnosis(If not a control) |
5 MO |
| Racial Category |
Filipino |
| Country |
CANADA |
| |
| 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 |
3.54 |
| Length at birth in cm |
50.8 |
| Was child breast-fed? |
yes no unknown |
| If yes, duration in months |
4 MONTHS |
| 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 |
337C>T |
| Mutations Allele 2 |
1172T>C |
| Family History |
| Are there other family members with PA? |
yes no unknown |
| Number of siblings with PA |
ONE |
| Number of living siblings with PA |
ONE |
| Other affected relatives? |
yes no unknown |
| Has the individual passed away? |
yes no unknown |
| Clinical Evaluation |
| Current weight in kgs |
30 |
| Current height in cms |
129 |
| Respiratory |
| Apnea |
yes no unknown |
| Tachypnea |
yes no unknown |
| Cardiovascular |
| Cardiomyopathy |
yes no unknown |
| If yes, type |
mild |
| Age at diagnosis of cardiomyopathy |
6 YR |
| 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 |
1-50% |
| Tube fed |
yes no unknown |
| If yes, what kind |
G-tube |
| 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 |
No Data |
| 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 |
3 YR |
| Language |
slightly below age level |
| Age when first talked |
3 YEARS |
| Congitive ability |
mildly impaired |
| IQ |
known untested unsure |
| Metabolic |
| Is the individual biotin responsive |
yes no unknown |
| Episodes of ketoacidosis |
yes no unknown |
| If yes, give frequency |
infrequently |
| Chronic hyperammonemia |
yes no unknown |
| Is the individual currently on metabolic formula |
yes no unknown |
| If yes, which ones |
Propimex
Pro-phree
Polcyose
|
| Is the individual taking levocarnitine |
yes no unknown |
| If yes, mg/kg |
8000MG/DAY |
| Other supllements |
|
| Remarks |
Clinically affected; affected sister is GM22124; presented at 5 months of age with acute decompensation, lethargy, metabolic acidosis, hyperammonemia, pancytopenia, high glycine and propionic acid in urine; cardiomyopathy; gut motility is normal; 1-50% eating by mouth; g-tube; infrequent vomiting; short stature; growth hormone treatment; walked at age 3 years; language significantly below age level; first talked at age 3 years; cognitive ability mildly impaired; episodes of ketoacidosis; on metabolic formula and levocarnitine; donor subject is a compound heterozygote: one allele has a C>T transition at nucleotide 377 in exon 3 of the PCCB gene (c.377C>T) resulting in a stop at codon 113 [Arg113Ter (R113X)] and the second allele has a T>C transition at nucleotide 1172 in exon 11 (c.1172T>C) resulting in the substitution of serine for phenylalanine at codon 391 [Phe391ser (F391S)] |