| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
9 YR |
| Sex |
Male |
| Age at Diagnosis(If not a control) |
1 WK |
| 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 |
| Was child breast-fed? |
yes no unknown |
| If yes, duration in months |
2 DAYS ONLY |
| 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 |
335G>A |
| Mutations Allele 2 |
1204DELG |
| 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 |
35.6 |
| Current height in cms |
127 |
| 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 |
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 |
18 MONTHS |
| Language |
uses assistive technology (device, PECS or sign) |
| Age when first talked |
2 YRS |
| Congitive ability |
moderately 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
|
| Is the individual taking levocarnitine |
yes no unknown |
| Other supllements |
Biotin
Iron
|
| Remarks |
Clinically affected; failure to thrive; normal gut motility; 50% of feeding by mouth; G-tube; infrequent vomitting; seizures; began walking at 18 months of age and is still walking; language is significantly below age level; uses language assisting technology; talked at age two years; cognitive ability moderately impaired; infrequent episodes of ketoacidosis; on metabolic formula and levocarnitine; donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 335 in exon 3 of the PCCB gene (c.335G>A) resulting in the substitution of aspartic acid for glycine at codon 112 [Gly112Asp (G112D)] and the second allele has a 1 bp deletion at nucleotide 1204 in exon 12 (1204delG) resulting in a frameshift and stop codon at Ala402 (Ala402fs) |