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Medium chain 3-ketoacyl-Coa thiolase deficiency

MedGen UID:
356367
Concept ID:
C1865781
Disease or Syndrome
Synonym: Medium Chain 3-Ketothiolase Deficiency
 
Monarch Initiative: MONDO:0011205
OMIM®: 602199

Clinical features

From HPO
Hereditary myoglobinuria
MedGen UID:
44557
Concept ID:
C0027080
Finding
Presence of myoglobin in the urine.
Vomiting
MedGen UID:
12124
Concept ID:
C0042963
Sign or Symptom
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
Decreased liver function
MedGen UID:
65430
Concept ID:
C0232744
Finding
Reduced ability of the liver to perform its functions.
Rhabdomyolysis
MedGen UID:
19775
Concept ID:
C0035410
Pathologic Function
Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream.
Dehydration
MedGen UID:
8273
Concept ID:
C0011175
Disease or Syndrome
A condition resulting from the excessive loss of water from the body. It is usually caused by severe diarrhea, vomiting or diaphoresis.
Metabolic acidosis
MedGen UID:
65117
Concept ID:
C0220981
Pathologic Function
Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause.

Professional guidelines

PubMed

Everard E, Laeremans H, Boemer F, Marie S, Vincent MF, Dewulf JP, Debray FG, De Laet C, Nassogne MC
Eur J Paediatr Neurol 2024 Mar;49:60-65. Epub 2024 Feb 7 doi: 10.1016/j.ejpn.2024.02.003. PMID: 38377647
Rücklová K, Hrubá E, Pavlíková M, Hanák P, Farolfi M, Chrastina P, Vlášková H, Kousal B, Smolka V, Foltenová H, Adam T, Friedecký D, Ješina P, Zeman J, Kožich V, Honzík T
Nutrients 2021 Aug 24;13(9) doi: 10.3390/nu13092925. PMID: 34578803Free PMC Article
Bishop Hubbard H
Policy Polit Nurs Pract 2007 Aug;8(3):201-9. doi: 10.1177/1527154407303498. PMID: 18178927

Recent clinical studies

Etiology

Rücklová K, Hrubá E, Pavlíková M, Hanák P, Farolfi M, Chrastina P, Vlášková H, Kousal B, Smolka V, Foltenová H, Adam T, Friedecký D, Ješina P, Zeman J, Kožich V, Honzík T
Nutrients 2021 Aug 24;13(9) doi: 10.3390/nu13092925. PMID: 34578803Free PMC Article
Karall D, Brunner-Krainz M, Kogelnig K, Konstantopoulou V, Maier EM, Möslinger D, Plecko B, Sperl W, Volkmar B, Scholl-Bürgi S
Orphanet J Rare Dis 2015 Feb 22;10:21. doi: 10.1186/s13023-015-0236-7. PMID: 25888220Free PMC Article
Rinaldo P, Raymond K, al-Odaib A, Bennett MJ
Curr Opin Pediatr 1998 Dec;10(6):615-21. doi: 10.1097/00008480-199810060-00014. PMID: 9848022
Tein I, Sloane AE, Donner EJ, Lehotay DC, Millington DS, Kelley RI
Pediatr Neurol 1995 Jan;12(1):21-30. doi: 10.1016/0887-8994(94)00100-g. PMID: 7748356
Rocchiccioli F, Wanders RJ, Aubourg P, Vianey-Liaud C, Ijlst L, Fabre M, Cartier N, Bougneres PF
Pediatr Res 1990 Dec;28(6):657-62. doi: 10.1203/00006450-199012000-00023. PMID: 2284166

Diagnosis

Rücklová K, Hrubá E, Pavlíková M, Hanák P, Farolfi M, Chrastina P, Vlášková H, Kousal B, Smolka V, Foltenová H, Adam T, Friedecký D, Ješina P, Zeman J, Kožich V, Honzík T
Nutrients 2021 Aug 24;13(9) doi: 10.3390/nu13092925. PMID: 34578803Free PMC Article
Moorthie S, Cameron L, Sagoo GS, Bonham JR, Burton H
J Inherit Metab Dis 2014 Nov;37(6):889-98. Epub 2014 Jul 15 doi: 10.1007/s10545-014-9729-0. PMID: 25022222
Bishop Hubbard H
Policy Polit Nurs Pract 2007 Aug;8(3):201-9. doi: 10.1177/1527154407303498. PMID: 18178927
Rinaldo P, Raymond K, al-Odaib A, Bennett MJ
Curr Opin Pediatr 1998 Dec;10(6):615-21. doi: 10.1097/00008480-199810060-00014. PMID: 9848022
IJlst L, Ruiter JP, Hoovers JM, Jakobs ME, Wanders RJ
J Clin Invest 1996 Aug 15;98(4):1028-33. doi: 10.1172/JCI118863. PMID: 8770876Free PMC Article

Therapy

Gillingham MB, Heitner SB, Martin J, Rose S, Goldstein A, El-Gharbawy AH, Deward S, Lasarev MR, Pollaro J, DeLany JP, Burchill LJ, Goodpaster B, Shoemaker J, Matern D, Harding CO, Vockley J
J Inherit Metab Dis 2017 Nov;40(6):831-843. Epub 2017 Sep 4 doi: 10.1007/s10545-017-0085-8. PMID: 28871440Free PMC Article
Karall D, Brunner-Krainz M, Kogelnig K, Konstantopoulou V, Maier EM, Möslinger D, Plecko B, Sperl W, Volkmar B, Scholl-Bürgi S
Orphanet J Rare Dis 2015 Feb 22;10:21. doi: 10.1186/s13023-015-0236-7. PMID: 25888220Free PMC Article
Potter BK, Little J, Chakraborty P, Kronick JB, Evans J, Frei J, Sutherland SC, Wilson K, Wilson BJ
J Inherit Metab Dis 2012 Jan;35(1):115-23. Epub 2011 Jun 1 doi: 10.1007/s10545-011-9352-2. PMID: 21630065
Bishop Hubbard H
Policy Polit Nurs Pract 2007 Aug;8(3):201-9. doi: 10.1177/1527154407303498. PMID: 18178927
Gillingham MB, Scott B, Elliott D, Harding CO
Mol Genet Metab 2006 Sep-Oct;89(1-2):58-63. Epub 2006 Jul 27 doi: 10.1016/j.ymgme.2006.06.004. PMID: 16876451Free PMC Article

Prognosis

Rücklová K, Hrubá E, Pavlíková M, Hanák P, Farolfi M, Chrastina P, Vlášková H, Kousal B, Smolka V, Foltenová H, Adam T, Friedecký D, Ješina P, Zeman J, Kožich V, Honzík T
Nutrients 2021 Aug 24;13(9) doi: 10.3390/nu13092925. PMID: 34578803Free PMC Article
Gillingham MB, Scott B, Elliott D, Harding CO
Mol Genet Metab 2006 Sep-Oct;89(1-2):58-63. Epub 2006 Jul 27 doi: 10.1016/j.ymgme.2006.06.004. PMID: 16876451Free PMC Article
Klose DA, Kölker S, Heinrich B, Prietsch V, Mayatepek E, von Kries R, Hoffmann GF
Pediatrics 2002 Dec;110(6):1204-11. doi: 10.1542/peds.110.6.1204. PMID: 12456920

Clinical prediction guides

Rücklová K, Hrubá E, Pavlíková M, Hanák P, Farolfi M, Chrastina P, Vlášková H, Kousal B, Smolka V, Foltenová H, Adam T, Friedecký D, Ješina P, Zeman J, Kožich V, Honzík T
Nutrients 2021 Aug 24;13(9) doi: 10.3390/nu13092925. PMID: 34578803Free PMC Article
Karall D, Brunner-Krainz M, Kogelnig K, Konstantopoulou V, Maier EM, Möslinger D, Plecko B, Sperl W, Volkmar B, Scholl-Bürgi S
Orphanet J Rare Dis 2015 Feb 22;10:21. doi: 10.1186/s13023-015-0236-7. PMID: 25888220Free PMC Article
Chegary M, Te Brinke H, Doolaard M, Ijlst L, Wijburg FA, Wanders RJ, Houten SM
Mol Genet Metab 2008 Apr;93(4):403-10. Epub 2008 Feb 20 doi: 10.1016/j.ymgme.2007.11.001. PMID: 18077198
Tyni T, Paetau A, Strauss AW, Middleton B, Kivelä T
Pediatr Res 2004 Nov;56(5):744-50. Epub 2004 Sep 3 doi: 10.1203/01.PDR.0000141967.52759.83. PMID: 15347768
Nada MA, Rhead WJ, Sprecher H, Schulz H, Roe CR
J Biol Chem 1995 Jan 13;270(2):530-5. doi: 10.1074/jbc.270.2.530. PMID: 7822275

Recent systematic reviews

Moorthie S, Cameron L, Sagoo GS, Bonham JR, Burton H
J Inherit Metab Dis 2014 Nov;37(6):889-98. Epub 2014 Jul 15 doi: 10.1007/s10545-014-9729-0. PMID: 25022222

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