|
PGP Participant Survey
|
Responses submitted 9/27/2016 19:02:00.
Show responses
|
| Timestamp |
9/27/2016 19:02:00 |
| Year of birth |
1986 |
| Do you have a severe genetic disease or rare genetic trait? If so, you can add a description for your public profile. |
Diagnosed clinically with Glutaric Acidemia type 2 (GA2, AKA Multiple Acyl-CoA Dehydrogenase Deficiency, MADD) based on repeated sets of biochemical testing (concentrations of plasma acylcarnitines of various chain lengths were significantly elevated). Hx elevated NH3 & CK; carnitine deficiency; acute renal failure; lactic acidosis; encephalopathy; hydrocephalus; dysautonomia; and connective tissue disorder. Targeted genetic testing for ETFA, ETFB, and ETFDH negative. WGS pending. |
| Sex/Gender |
Male |
| Race/ethnicity |
White |
| Maternal grandmother: Country of origin |
United States |
| Paternal grandmother: Country of origin |
United States |
| Paternal grandfather: Country of origin |
United States |
| Maternal grandfather: Country of origin |
Syrian Arab Republic |
| Month of birth |
November |
| Anatomical sex at birth |
Male |
| Maternal grandmother: Race/ethnicity |
American Indian / Alaska Native, White |
| Maternal grandfather: Race/ethnicity |
White |
| Paternal grandmother: Race/ethnicity |
White |
| Paternal grandfather: Race/ethnicity |
White |
|
PGP Trait & Disease Survey 2012: Cancers
|
Responses submitted 9/27/2016 20:58:33.
Show responses
|
| Timestamp |
9/27/2016 20:58:33 |
| Have you ever been diagnosed with one of the following conditions? |
Lipoma |
| Other condition not listed here? |
Grandmo & great aunt w/ metastatic carcinoid, sister w/ SDHD mutation implicated in carcinoid, novel POLG deletion |
|
PGP Trait & Disease Survey 2012: Endocrine, Metabolic, Nutritional, and Immunity
|
Responses submitted 9/27/2016 21:00:37.
Show responses
|
| Timestamp |
9/27/2016 21:00:37 |
| Have you ever been diagnosed with any of the following conditions? |
Lactose intolerance |
| Other condition not listed here? |
Elevated ALA & plasma tyrosine, phenylalanine, methionine; extreme adverse rx reactions + anemia. Tyrosinemia has been questioned |
|
PGP Trait & Disease Survey 2012: Blood
|
Responses submitted 9/27/2016 21:03:12.
Show responses
|
| Timestamp |
9/27/2016 21:03:12 |
| Other condition not listed here? |
macrocytic anemia & pancytopenia, folate & carnitine deficiency in association w/ metabolic crisis and probably Glutaric acidemia type 2. Both mother and maternal grandfather have IgM Kappa. Mo dx w/ smoldering myeloma. Grandfa had chronic lymphocytic leukemia |
|
PGP Trait & Disease Survey 2012: Blood
|
Responses submitted 9/27/2016 21:05:22.
Show responses
|
| Timestamp |
9/27/2016 21:05:22 |
| Other condition not listed here? |
macrocytic anemia & pancytopenia w/ probably GA2. Mo and fa both have IgM Kappa spike, mo w/ smouldering myeloma and grandfa w/ chronic lymphocytic leukemia |
|
PGP Trait & Disease Survey 2012: Nervous System
|
Responses submitted 9/27/2016 21:07:40.
Show responses
|
| Timestamp |
9/27/2016 21:07:40 |
| Have you ever been diagnosed with one of the following conditions? |
Restless legs syndrome, Hereditary motor and sensory neuropathy (includes Charcot-Marie-Tooth disease and HNPP) |
| Other condition not listed here? |
"night terror" was non-REM parasomnia, central sleep apnea, fragmented "alpha-delta" sleep |
