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 |
Family History |
Are there other family members with PA? |
yes no unknown |
Other affected relatives? |
yes no unknown |
Has the individual passed away? |
yes no unknown |
Clinical Evaluation |
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 |
100% |
Tube fed |
yes no unknown |
Are anti-emetics used for vomiting |
No Data |
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 |
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 |
IQ |
known untested unsure |
Metabolic |
Is the individual biotin responsive |
yes no unknown |
Episodes of ketoacidosis |
yes no unknown |
Chronic hyperammonemia |
yes no unknown |
Is the individual currently on metabolic formula |
yes no unknown |
If yes, which ones |
|
Is the individual taking levocarnitine |
yes no unknown |
Other supllements |
|
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) |