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Myoglobinuria, acute recurrent, autosomal recessive

MedGen UID:
340308
Concept ID:
C1849386
Disease or Syndrome
Synonyms: MYOGLOBINURIA, FAMILIAL PAROXYSMAL PARALYTIC; Myoglobinuria, recurrent, autosomal recessive; RHABDOMYOLYSIS, ACUTE RECURRENT
 
Gene (location): LPIN1 (2p25.1)
 
Monarch Initiative: MONDO:0009992
OMIM®: 268200

Definition

Recurrent myoglobinuria is characterized by recurrent attacks of rhabdomyolysis associated with muscle pain and weakness and followed by excretion of myoglobin in the urine. Renal failure may occasionally occur. Onset is usually in early childhood under the age of 5 years. Unlike the exercise-induced rhabdomyolyses such as McArdle syndrome (232600), carnitine palmitoyltransferase deficiency (see 255110), and the Creteil variety of phosphoglycerate kinase deficiency (311800), the attacks in recurrent myoglobinuria no relation to exercise, but are triggered by intercurrent illnesses, commonly upper respiratory tract infections (Ramesh and Gardner-Medwin, 1992). See 160010 for discussion of a possible autosomal dominant form of myoglobinuria. Severe rhabdomyolysis is a major clinical feature of anesthetic-induced malignant hyperthermia (145600), an autosomal dominant disorder. [from OMIM]

Clinical features

From HPO
Myalgia
MedGen UID:
68541
Concept ID:
C0231528
Sign or Symptom
Pain in muscle.
Hereditary myoglobinuria
MedGen UID:
44557
Concept ID:
C0027080
Finding
Presence of myoglobin in the urine.
Acute kidney injury
MedGen UID:
388570
Concept ID:
C2609414
Injury or Poisoning
Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia).
Areflexia
MedGen UID:
115943
Concept ID:
C0234146
Finding
Absence of neurologic reflexes such as the knee-jerk reaction.
Hyporeflexia
MedGen UID:
195967
Concept ID:
C0700078
Finding
Reduction of neurologic reflexes such as the knee-jerk reaction.
Muscle weakness
MedGen UID:
57735
Concept ID:
C0151786
Finding
Reduced strength of muscles.
Acute rhabdomyolysis
MedGen UID:
813636
Concept ID:
C3807306
Finding
An acute form of rhabdomyolysis.
Fever
MedGen UID:
5169
Concept ID:
C0015967
Sign or Symptom
Body temperature elevated above the normal range.
Hyperkalemia
MedGen UID:
5691
Concept ID:
C0020461
Finding
An abnormally increased potassium concentration in the blood.
Elevated circulating creatine kinase concentration
MedGen UID:
69128
Concept ID:
C0241005
Finding
An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.
Increased circulating lactate dehydrogenase concentration
MedGen UID:
1377250
Concept ID:
C4477095
Finding
An elevated level of the enzyme lactate dehydrogenase in the blood circulation.

Recent clinical studies

Diagnosis

Tong K, Yu GS
BMC Neurol 2021 Jan 29;21(1):42. doi: 10.1186/s12883-021-02050-w. PMID: 33514355Free PMC Article
Summerlin ML, Regier DS, Fraser JL, Chapman KA, Kafashzadeh D, Billington C Jr, Kisling M, Grochowsky A, Ah Mew N, Shur N
Am J Med Genet A 2021 Feb;185(2):500-507. Epub 2020 Dec 10 doi: 10.1002/ajmg.a.62000. PMID: 33300687
Coppens S, Koralkova P, Aeby A, Mojzikova R, Deconinck N, Kadhim H, van Wijk R
Neuromuscul Disord 2016 Mar;26(3):207-10. Epub 2015 Nov 30 doi: 10.1016/j.nmd.2015.11.008. PMID: 26883264
Cho SY, Siu TS, Ma O, Tam S, Lam CW
Clin Chim Acta 2013 Oct 21;425:125-7. Epub 2013 Aug 1 doi: 10.1016/j.cca.2013.07.018. PMID: 23911907
Heyne N, Guthoff M, Krieger J, Haap M, Häring HU
Nephron Clin Pract 2012;121(3-4):c159-64. Epub 2013 Jan 16 doi: 10.1159/000343564. PMID: 23327834

Therapy

Summerlin ML, Regier DS, Fraser JL, Chapman KA, Kafashzadeh D, Billington C Jr, Kisling M, Grochowsky A, Ah Mew N, Shur N
Am J Med Genet A 2021 Feb;185(2):500-507. Epub 2020 Dec 10 doi: 10.1002/ajmg.a.62000. PMID: 33300687

Prognosis

Tong K, Yu GS
BMC Neurol 2021 Jan 29;21(1):42. doi: 10.1186/s12883-021-02050-w. PMID: 33514355Free PMC Article
Zafeiriou DI, Ververi A, Tsitlakidou A, Anastasiou A, Vargiami E
Neuromuscul Disord 2013 Feb;23(2):116-9. Epub 2012 Nov 22 doi: 10.1016/j.nmd.2012.08.004. PMID: 23177318

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