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Myoglobinuria, recurrent

MedGen UID:
333201
Concept ID:
C1838877
Finding; Finding
Synonym: MT-CYB-Related Recurrent Myoglobinuria
 
HPO: HP:0003652
Monarch Initiative: MONDO:0010791
OMIM®: 550500

Definition

Recurring episodes of myoglobinuria, i.e., of the presence of myoglobin in the urine. This is usually a consequence of rhabdomyolysis, i.e., of the destruction of muscle tissue. [from HPO]

Clinical features

From HPO
Myoglobinuria, recurrent
MedGen UID:
333201
Concept ID:
C1838877
Finding
Recurring episodes of myoglobinuria, i.e., of the presence of myoglobin in the urine. This is usually a consequence of rhabdomyolysis, i.e., of the destruction of muscle tissue.
Exercise-induced myoglobinuria
MedGen UID:
337172
Concept ID:
C1845155
Finding
Presence of myoglobin in the urine following exercise.
Ragged-red muscle fibers
MedGen UID:
477048
Concept ID:
C3275417
Finding
An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged. The ragged-red is due to the accumulation of abnormal mitochondria below the plasma membrane of the muscle fiber, leading to the appearance of a red rim and speckled sarcoplasm.

Conditions with this feature

Myoglobinuria, recurrent
MedGen UID:
333201
Concept ID:
C1838877
Finding
Recurring episodes of myoglobinuria, i.e., of the presence of myoglobin in the urine. This is usually a consequence of rhabdomyolysis, i.e., of the destruction of muscle tissue.
Coenzyme Q10 deficiency, primary, 1
MedGen UID:
764868
Concept ID:
C3551954
Disease or Syndrome
Primary coenzyme Q10 (CoQ10) deficiency is usually associated with multisystem involvement, including neurologic manifestations such as fatal neonatal encephalopathy with hypotonia; a late-onset slowly progressive multiple-system atrophy-like phenotype (neurodegeneration with autonomic failure and various combinations of parkinsonism and cerebellar ataxia, and pyramidal dysfunction); and dystonia, spasticity, seizures, and intellectual disability. Steroid-resistant nephrotic syndrome (SRNS), the hallmark renal manifestation, is often the initial manifestation either as isolated renal involvement that progresses to end-stage renal disease (ESRD), or associated with encephalopathy (seizures, stroke-like episodes, severe neurologic impairment) resulting in early death. Hypertrophic cardiomyopathy (HCM), retinopathy or optic atrophy, and sensorineural hearing loss can also be seen.
Mitochondrial trifunctional protein deficiency 2
MedGen UID:
1841010
Concept ID:
C5830374
Disease or Syndrome
The mitochondrial trifunctional protein, composed of 4 alpha and 4 beta subunits, catalyzes 3 steps in mitochondrial beta-oxidation of fatty acids: long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD), long-chain enoyl-CoA hydratase, and long-chain thiolase activities. Trifunctional protein deficiency is characterized by decreased activity of all 3 enzymes. Clinically, classic trifunctional protein deficiency can be classified into 3 main clinical phenotypes: neonatal onset of a severe, lethal condition resulting in sudden unexplained infant death (SIDS; 272120), infantile onset of a hepatic Reye-like syndrome, and late-adolescent onset of primarily a skeletal myopathy (summary by Spiekerkoetter et al., 2003). Some patients with MTP deficiency show a protracted progressive course associated with myopathy, recurrent rhabdomyolysis, and sensorimotor axonal neuropathy. These patients tend to survive into adolescence and adulthood (den Boer et al., 2003). See mitochondrial trifunctional protein deficiency-1 (609015), caused by mutation in the HADHA gene (600890), the alpha subunit of mitochondrial trifunctional protein.

Recent clinical studies

Etiology

Marisiddappa L, Desai AM, Kedlaya PG, Sathish R
Saudi J Kidney Dis Transpl 2018 Jan-Feb;29(1):210-213. doi: 10.4103/1319-2442.225181. PMID: 29456233

Diagnosis

Lu S, Lyu Z, Wang Z, Kou Y, Liu C, Li S, Hu M, Zhu H, Wang W, Zhang C, Kuan YS, Liu YW, Chen J, Tian J
Theranostics 2021;11(6):2788-2805. Epub 2021 Jan 1 doi: 10.7150/thno.53330. PMID: 33456573Free PMC Article
Marisiddappa L, Desai AM, Kedlaya PG, Sathish R
Saudi J Kidney Dis Transpl 2018 Jan-Feb;29(1):210-213. doi: 10.4103/1319-2442.225181. PMID: 29456233
Gempel K, Kiechl S, Hofmann S, Lochmüller H, Kiechl-Kohlendorfer U, Willeit J, Sperl W, Rettinger A, Bieger I, Pongratz D, Gerbitz KD, Bauer MF
J Inherit Metab Dis 2002 Feb;25(1):17-27. doi: 10.1023/a:1015109127986. PMID: 11999976

Prognosis

Lu S, Lyu Z, Wang Z, Kou Y, Liu C, Li S, Hu M, Zhu H, Wang W, Zhang C, Kuan YS, Liu YW, Chen J, Tian J
Theranostics 2021;11(6):2788-2805. Epub 2021 Jan 1 doi: 10.7150/thno.53330. PMID: 33456573Free PMC Article

Clinical prediction guides

Lu S, Lyu Z, Wang Z, Kou Y, Liu C, Li S, Hu M, Zhu H, Wang W, Zhang C, Kuan YS, Liu YW, Chen J, Tian J
Theranostics 2021;11(6):2788-2805. Epub 2021 Jan 1 doi: 10.7150/thno.53330. PMID: 33456573Free PMC Article
Gempel K, Kiechl S, Hofmann S, Lochmüller H, Kiechl-Kohlendorfer U, Willeit J, Sperl W, Rettinger A, Bieger I, Pongratz D, Gerbitz KD, Bauer MF
J Inherit Metab Dis 2002 Feb;25(1):17-27. doi: 10.1023/a:1015109127986. PMID: 11999976

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