Disease #02811 (MTPD (mitochondrial trifunctional protein deficiency))

Official abbreviation MTPD
Name mitochondrial trifunctional protein deficiency
OMIM ID -
Inheritance -
Individuals reported having this disease 160
Phenotype entries for this disease 155
Associated with 2 genes HADHA, HADHB
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2024-11-12 15:39:12 +01:00 (CET)


Individuals

160 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00025019 - - - F no China - 08y05m - - L-carnitine，adjusting the diet MTPD lower limb weakness HADHB HADHB 1 1 Xiaona Fu
00080972 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - MTPD Trifunctional protein deficiency (OMIM:609015) HADHB HADHB 1 1 Daniel Trujillano
00362264 - - - M - Germany - - - - - MTPD - HADHA HADHA 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00457451 ?;Pat1 PubMed: Kamijo 1994, PubMed: Ushikubo 1996 - - - Japan - - - - - MTPD see paper; ... HADHB HADHB 2 1 Johan den Dunnen
00457453 Pat3;Pat7;Pat1 PubMed: Ushikubo 1996, PubMed: Spiekerkoetter 2003, PubMed: Spiekerkoetter 2004 - F - United States white - - - - MTPD 4m-hypoglycemia, hyperammonemia, mild liver dysfunction, 3 hydroxydicarboxylic aciduria; no cardiomyopathy, skeletal myopathy, neuropathy HADHB HADHB 2 1 Johan den Dunnen
00457454 Pat2;Pat5;Pat14 PubMed: Orii 1997, PubMed: Purevsuren 2009, PubMed: Bo 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Japan - - - - - MTPD see paper; ..., myopathic, muscle pain, weakness; elevated CK, myoglobinuria; normal development HADHB HADHB 1 1 Johan den Dunnen
00457455 Pat1;Pat4;Pat9 PubMed: Orii 1997, PubMed: Purevsuren 2009, PubMed: Bo 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Japan - - - - - MTPD see paper; ..., respiratory failure, hypotonia; liver dysfunction; delayed development HADHB HADHB 3 1 Johan den Dunnen
00457456 patient;Pat1;Pat4 PubMed: Purevsuren 2008, PubMed: Purevsuren 2009, PubMed: Bo 2017 - F - Japan - 00y00m08d - - - MTPD see paper; ..., 8d-deceased; cardiomyopathy, respiratory distress, hypoglycemia, hyperammonemia, metabolic acidosis, liver dysfunction HADHB HADHB 2 1 Johan den Dunnen
00457457 Pat2;Pat7 PubMed: Purevsuren 2009, PubMed: Bo 2017 - M yes Japan - 00y03m - - - MTPD see paper; ..., 3m-deceased; cardiomyopathy, respiratory distress; hypoglycemia, hyperammonemia HADHB HADHB 1 1 Johan den Dunnen
00457458 Pat3;Pat8 PubMed: Purevsuren 2009, PubMed: Bo 2017 - F - Japan - - - - - MTPD see paper; ..., hepatic, coma, convulsion, developmental delay; lactic acidemia, liver dysfunction; developmental delay HADHB HADHB 2 1 Johan den Dunnen
00457459 FamPatIV1;Pat10 PubMed: Naiki 2014, PubMed: Bo 2017 2-generation family, affected dizygotic twins, unaffected heterozygous carrier parents/relatives F - Japan - - - - - MTPD see paper; ..., 35d-hypoparathyroidism; 2y-rhabdomyolysis; 3y-peripheral polyneuropathy; no hypotonia; no liver dysfunction HADHB HADHB 1 2 Johan den Dunnen
00457460 FamPatIV2;Pat11 PubMed: Naiki 2014, PubMed: Bo 2017 twin brother M - Japan - - - - - MTPD see paper; ..., 4m-hypoparathyroidism; 3y-rhabdomyolysis; 3y-peripheral polyneuropathy; no hypotonia; no liver dysfunction HADHB HADHB 1 1 Johan den Dunnen
00457461 - PubMed: Labarthe 2006 - F - France - - - - - MTPD see paper; ..., admitted for lethargy, hypotonia, hypomobility due to muscular pains, areflexia; mild hypoglycaemia; peripheral neuropathy, decreased sensitive nerve conduction velocity; 4m-hypoparathyroidism; 1y3m-rhabdomyolysis; 4m-peripheral polyneuropathy; hypotonia; liver dysfunction; hypoparathyroidism HADHB HADHB 1 1 Johan den Dunnen
00457462 patient PubMed: Park 2009 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Korea - - - - - MTPD see paper; ..., 36w-birth, weight 2600 g (25-50th), length 48.5 cm (50-75th ), OFC 33 cm (50th); 1d-chest retractions with grunting sound, severe metabolic acidosis; hypotension, oliguric renal failure HADHB HADHB 2 1 Johan den Dunnen
00457467 Pat1 PubMed: IJlst 1994 2-generation family, 1 affected, unaffected heterozygous carrier parents - - Netherlands - - - - - MTPD - HADHA HADHA 1 1 Johan den Dunnen
00457468 Pat2 PubMed: IJlst 1994 - - - - - - - - - MTPD - HADHA HADHA 1 1 Johan den Dunnen
00457469 Pat3 PubMed: IJlst 1994 - - - - - - - - - MTPD - HADHA HADHA 1 1 Johan den Dunnen
00457470 Pat4 PubMed: IJlst 1994 - - - - - - - - - MTPD - HADHA HADHA 1 1 Johan den Dunnen
00457471 Pat5 PubMed: IJlst 1994 - - - - - - - - - MTPD - HADHA HADHA 1 1 Johan den Dunnen
00457472 Pat6 PubMed: IJlst 1994 - - - - - - - - - MTPD - HADHA HADHA 1 1 Johan den Dunnen
00457473 Pat7 PubMed: IJlst 1994 - - - - - - - - - MTPD - HADHA HADHA 1 1 Johan den Dunnen
00457474 Pat8 PubMed: IJlst 1994 - - - - - - - - - MTPD - HADHA HADHA 1 1 Johan den Dunnen
00457475 Pat9 PubMed: IJlst 1994 - - - - - - - - - MTPD - HADHA HADHA 1 1 Johan den Dunnen
00457476 Pat10 PubMed: IJlst 1994 - - - - - - - - - MTPD - HADHA HADHA 1 1 Johan den Dunnen
00457477 Pat11 PubMed: IJlst 1994 - - - - - - - - - MTPD - HADHA HADHA 1 1 Johan den Dunnen
00457478 Pat12 PubMed: IJlst 1994 - - - - - - - - - MTPD - HADHA HADHA 1 1 Johan den Dunnen
00457479 Pat13 PubMed: IJlst 1994 - - - - - - - - - MTPD - HADHA HADHA 1 1 Johan den Dunnen
00457480 Pat14 PubMed: IJlst 1994 - - - - - - - - - MTPD - HADHA HADHA 1 1 Johan den Dunnen
00457481 Pat15 PubMed: IJlst 1994 - - - - - - - - - MTPD - HADHA HADHA 1 1 Johan den Dunnen
00457482 Pat16 PubMed: IJlst 1994 - - - - - - - - - MTPD - HADHA HADHA 1 1 Johan den Dunnen
00457483 Pat17 PubMed: IJlst 1994 - - - - - - - - - MTPD - HADHA HADHA 1 1 Johan den Dunnen
00457484 Pat18 PubMed: IJlst 1994 - - - - - - - - - MTPD - HADHA HADHA 1 1 Johan den Dunnen
00457485 Pat19 PubMed: IJlst 1994 - - - - - - - - - MTPD - HADHA HADHA 1 1 Johan den Dunnen
00457486 Pat20 PubMed: IJlst 1994 - - - - - - - - - MTPD - HADHA HADHA 1 1 Johan den Dunnen
00457487 Pat21 PubMed: IJlst 1994 - - - - - - - - - MTPD - HADHA HADHA 1 1 Johan den Dunnen
00457488 Pat22 PubMed: IJlst 1994 - - - - - - - - - MTPD - HADHA HADHA 1 1 Johan den Dunnen
00457489 Pat23 PubMed: IJlst 1994 - - - - - - - - - MTPD - HADHA HADHA 1 1 Johan den Dunnen
00457490 Pat24 PubMed: IJlst 1994 - - - - - - - - - MTPD - HADHA HADHA 1 1 Johan den Dunnen
00457491 PatA;Pat10 PubMed: Ibdah 1998, PubMed: Spiekerkoetter 2004 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States - - - - - MTPD see paper; ... HADHA HADHA 1 1 Johan den Dunnen
00457492 PatB;Pat9 PubMed: Ibdah 1998, PubMed: Spiekerkoetter 2004 - - - United States - - - - - MTPD see paper; ... HADHA HADHA 2 1 Johan den Dunnen
00457493 Pat1 PubMed: IJlst 1997 - - - - - - - - - MTPD see paper; ... HADHA HADHA 2 1 Johan den Dunnen
00457494 Pat2 PubMed: IJlst 1997 - - - - - - - - - MTPD see paper; ... HADHA HADHA 2 1 Johan den Dunnen
00457495 patient;Pat2 PubMed: Brackett 1995, PubMed: Ushikubo 1996 - - - United States - - - - - MTPD see paper; ... HADHA HADHA 2 1 Johan den Dunnen
00457496 patient PubMed: Liewluck 2013 - M - United States - - - - - MTPD see paper; ..., recurrent rhabdomyolysis; normal developmental milestones, athletic, worked as railroad conductor; ankle reflexes markedly diminished HADHA HADHA 2 1 Johan den Dunnen
00457497 patient;Pat11;Pat14 PubMed: Isaacs 1996, PubMed: Spiekerkoetter 2004, PubMed: Gillingham 2005 2-generation family, 1 affected, unaffected heterozygous carrier father, carrier mother acute fatty liver of pregnancy M - United States - - - - - MTPD see paper; ..., 35w-delivered by emergent cesarean section for fetal distress, required brief respiratory support; 4m-viral upper respiratory infection with vomiting, irritability, decreased oral intake, rapidly lethargic, developed coma with hypoglycemia/metabolic acidosis HADHA HADHA 2 1 Johan den Dunnen
00457498 FamPatII2 PubMed: Yang 2022 2-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives F - China - 03y - - - MTPD see paper; ..., 3y-deceased (fever half a day; sleepiness, diminished speech, progressive disturbance of consciousness for 1 day; respiratory weakness for 30 min); 39w+2-birth, weight 3,990 g; weakness in both lower limbs, poor swallowing function - HADHA 2 2 Johan den Dunnen
00457499 FamPatII3 PubMed: Yang 2022 brother M - China - 00y07m - - - MTPD see paper; ..., 7m-deceased (sudden death fever,diarrhea); 38w+3-birth,weight 3,070 g; autopsy upper respiratory tract infection, liver/cardiac cell fat modification - HADHA 2 1 Johan den Dunnen
00457500 FamAPatII1 PubMed: Sims 1995 2-generation family, 1 affected, unaffected heterozygous carrier parents (mother acute fatty liver of pregnancy) - - United States - - - - - MTPD see paper; ... HADHA HADHA 1 1 Johan den Dunnen
00457501 FamCPatII1 PubMed: Sims 1995 2-generation family, 1 affected, unaffected heterozygous carrier parents (mother acute fatty liver of pregnancy) - - United States - - - - - MTPD see paper; ... HADHA HADHA 1 1 Johan den Dunnen
00457502 FamBPatII1 PubMed: Sims 1995 2-generation family, 1 affected, unaffected heterozygous carrier parents (mother acute fatty liver of pregnancy) - - United States - - - - - MTPD see paper; ... HADHA HADHA 2 1 Johan den Dunnen
00457503 patient PubMed: Zhang 2023, PubMed: Chen 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - MTPD see paper; ..., diarrhea, irritability, anorexia, poor reactions - HADHA 2 1 Johan den Dunnen
00457504 patient PubMed: Li 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - MTPD see paper; ..., early milestones slightly delayed; 14m-recurrent afebrile convulsion, limbs/trunk hypotonia - HADHB 2 1 Johan den Dunnen
00457505 Pat1 PubMed: Boutron 2011 - - - France - - - - - MTPD late-onset neuromyopathic form; alive HADHA HADHA 2 1 Johan den Dunnen
00457506 Pat2 PubMed: Boutron 2011 - - - France - - - - - MTPD severe neonatal form; abnormalities third trimester pregnancy ; died HADHA HADHA 1 1 Johan den Dunnen
00457507 Pat3 PubMed: Boutron 2011 - - - France - - - - - MTPD infantile hepatic form; alive HADHA HADHA 2 1 Johan den Dunnen
00457508 Pat4 PubMed: Boutron 2011 - - - France - - - - - MTPD infantile hepatic form; died HADHA HADHA 2 1 Johan den Dunnen
00457509 Pat5 PubMed: Boutron 2011 - - - France - - - - - MTPD severe neonatal form; abnormalities third trimester pregnancy ; died HADHA HADHA 2 1 Johan den Dunnen
00457510 Pat6 PubMed: Boutron 2011 - - - France - - - - - MTPD infantile hepatic form; died HADHA HADHA 1 1 Johan den Dunnen
00457511 Pat7 PubMed: Boutron 2011 - - - France - - - - - MTPD late-onset neuromyopathic form; alive HADHA HADHA 1 1 Johan den Dunnen
00457512 Pat8 PubMed: Boutron 2011 - - - France - - - - - MTPD late-onset neuromyopathic form; died HADHA HADHA 1 1 Johan den Dunnen
00457513 Pat9 PubMed: Boutron 2011 - - - France - - - - - MTPD late-onset neuromyopathic form; alive HADHA HADHA 1 1 Johan den Dunnen
00457514 Pat10 PubMed: Boutron 2011 - - - France - - - - - MTPD late-onset neuromyopathic form; alive HADHA HADHA 2 1 Johan den Dunnen
00457515 Pat11 PubMed: Boutron 2011 - - - France - - - - - MTPD infantile hepatic form; alive HADHA HADHA 2 1 Johan den Dunnen
00457516 Pat12 PubMed: Boutron 2011 - - - France - - - - - MTPD infantile hepatic form; died HADHA HADHA 2 1 Johan den Dunnen
00457517 Pat13 PubMed: Boutron 2011 - - - France - - - - - MTPD infantile hepatic form; alive HADHA HADHA 2 1 Johan den Dunnen
00457518 Pat14 PubMed: Boutron 2011 - - - France - - - - - MTPD infantile hepatic form; alive HADHA HADHA 2 1 Johan den Dunnen
00457519 Pat15 PubMed: Boutron 2011 - - - France - - - - - MTPD infantile hepatic form; alive HADHA HADHA 2 1 Johan den Dunnen
00457520 Pat16 PubMed: Boutron 2011 - - - France - - - - - MTPD infantile hepatic form; alive HADHA HADHA 2 1 Johan den Dunnen
00457521 Pat17 PubMed: Boutron 2011 - - - France - - - - - MTPD infantile hepatic form; alive HADHA HADHA 2 1 Johan den Dunnen
00457522 Pat18 PubMed: Boutron 2011 - - - France - - - - - MTPD infantile hepatic form; alive HADHA HADHA 1 1 Johan den Dunnen
00457523 Pat19 PubMed: Boutron 2011 - - - France - - - - - MTPD infantile hepatic form; alive HADHA HADHA 1 1 Johan den Dunnen
00457524 Pat20 PubMed: Boutron 2011 - - - France - - - - - MTPD infantile hepatic form; alive HADHA HADHA 1 1 Johan den Dunnen
00457525 Pat21 PubMed: Boutron 2011 - - - France - - - - - MTPD infantile hepatic form; alive HADHA HADHA 1 1 Johan den Dunnen
00457526 Pat22 PubMed: Boutron 2011 - - - France - - - - - MTPD infantile hepatic form; alive HADHA HADHA 1 1 Johan den Dunnen
00457527 Pat23 PubMed: Boutron 2011 - - - France - - - - - MTPD infantile hepatic form; alive HADHA HADHA 1 1 Johan den Dunnen
00457528 Pat24 PubMed: Boutron 2011 - - - France - - - - - MTPD infantile hepatic form; alive HADHA HADHA 1 1 Johan den Dunnen
00457529 Pat25 PubMed: Boutron 2011 - - - France - - - - - MTPD infantile hepatic form; alive HADHA HADHA 1 1 Johan den Dunnen
00457530 Pat26 PubMed: Boutron 2011 - - - France - - - - - MTPD infantile hepatic form; died HADHA HADHA 1 1 Johan den Dunnen
00457531 Pat27 PubMed: Boutron 2011 - - - France - - - - - MTPD infantile hepatic form; died HADHA HADHA 1 1 Johan den Dunnen
00457532 Pat28 PubMed: Boutron 2011 - - - France - - - - - MTPD infantile hepatic form; died HADHA HADHA 1 1 Johan den Dunnen
00457533 Pat29 PubMed: Boutron 2011 - - - France - - - - - MTPD infantile hepatic form; died HADHA HADHA 1 1 Johan den Dunnen
00457534 Pat30 PubMed: Boutron 2011 - - - France - - - - - MTPD infantile hepatic form; died HADHA HADHA 1 1 Johan den Dunnen
00457535 Pat31 PubMed: Boutron 2011 - - - France - - - - - MTPD infantile hepatic form; died HADHA HADHA 1 1 Johan den Dunnen
00457536 Pat32 PubMed: Boutron 2011 - - - France - - - - - MTPD infantile hepatic form; died HADHA HADHA 1 1 Johan den Dunnen
00457537 Pat33 PubMed: Boutron 2011 - - - France - - - - - MTPD infantile hepatic form; died HADHA HADHA 1 1 Johan den Dunnen
00457538 Pat34 PubMed: Boutron 2011 - - - France - - - - - MTPD infantile hepatic form; died HADHA HADHA 1 1 Johan den Dunnen
00457539 Pat35 PubMed: Boutron 2011 - - - France - - - - - MTPD infantile hepatic form; died HADHA HADHA 1 1 Johan den Dunnen
00457540 Pat36 PubMed: Boutron 2011 - - - France - - - - - MTPD infantile hepatic form; died HADHA HADHA 1 1 Johan den Dunnen
00457541 Pat37 PubMed: Boutron 2011 - - - France - - - - - MTPD severe neonatal form; died HADHA HADHA 2 1 Johan den Dunnen
00457542 Pat38 PubMed: Boutron 2011 - - - France - - - - - MTPD infantile hepatic form; died HADHA HADHA 2 1 Johan den Dunnen
00457543 Pat39 PubMed: Boutron 2011 - - - France - - - - - MTPD severe neonatal form; died HADHA HADHA 1 1 Johan den Dunnen
00457544 Pat40 PubMed: Boutron 2011 - - - France - - - - - MTPD infantile hepatic form; abnormalities third trimester pregnancy ; alive HADHA HADHA 2 1 Johan den Dunnen
00457545 Pat41 PubMed: Boutron 2011 - - - France - - - - - MTPD severe neonatal form; died HADHA HADHA 2 1 Johan den Dunnen
00457546 Pat42 PubMed: Boutron 2011 - - - France - - - - - MTPD infantile hepatic form; died HADHA HADHA 2 1 Johan den Dunnen
00457547 Pat43 PubMed: Boutron 2011 - - - France - - - - - MTPD severe neonatal form; abnormalities third trimester pregnancy ; died HADHA HADHA 1 1 Johan den Dunnen
00457548 Pat44 PubMed: Boutron 2011 - - - France - - - - - MTPD infantile hepatic form; alive HADHA HADHA 2 1 Johan den Dunnen
00457549 Pat45 PubMed: Boutron 2011 - - - France - - - - - MTPD infantile hepatic form; alive HADHA HADHA 2 1 Johan den Dunnen
00457550 Pat46 PubMed: Boutron 2011 - - - France - - - - - MTPD severe neonatal form; died HADHB HADHA, HADHB 2 1 Johan den Dunnen
00457551 Pat47 PubMed: Boutron 2011 - - - France - - - - - MTPD severe neonatal form; died HADHB HADHB 1 1 Johan den Dunnen
00457552 Pat48 PubMed: Boutron 2011 - - - France - - - - - MTPD severe neonatal form; abnormalities third trimester pregnancy ; died HADHB HADHB 1 1 Johan den Dunnen
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.