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Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2(HUMOP2)

MedGen UID:: 1824010
•Concept ID:: C5774237
•: Disease or Syndrome

Synonym:	HUMOP2

Gene (location): Gene(s) directly associated with this condition or phenotype.	ATP5F1B (12q13.3)

Monarch Initiative:	MONDO:0859302
OMIM®:	620085

Definition

Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation-2 (HUMOP2) is characterized by failure to thrive apparent in infancy despite adequate caloric intake. Affected individuals show normal thyroid function, hyperphagia, tachypnea, increased basal temperature, and increased sweating. Biochemical studies demonstrate increased mitochondrial oxygen consumption with inefficient production of ATP in the final steps of oxidative phosphorylation due to an uncoupling defect (Ganetzky et al., 2022). Genetic Heterogeneity of Hypermetabolism due to Uncoupled Mitochondrial Oxidative Phosphorylation See also HUMOP1 (238800). [from OMIM]

Clinical features

From HPO

Failure to thrive

MedGen UID:: 746019
•Concept ID:: C2315100
•: Disease or Syndrome

Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.

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Decreased body weight

MedGen UID:: 1806755
•Concept ID:: C5574742
•: Finding

Abnormally low body weight.

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Polyphagia

MedGen UID:: 9369
•Concept ID:: C0020505
•: Finding

A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat.

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Mild global developmental delay

MedGen UID:: 861405
•Concept ID:: C4012968
•: Finding

A mild delay in the achievement of motor or mental milestones in the domains of development of a child.

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Tachypnea

MedGen UID:: 66669
•Concept ID:: C0231835
•: Finding

Very rapid breathing.

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Increased blood urea nitrogen

MedGen UID:: 760252
•Concept ID:: C0151539
•: Finding

An increased amount of nitrogen in the form of urea in the blood.

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Hypervalinemia

MedGen UID:: 120652
•Concept ID:: C0268573
•: Disease or Syndrome

Valinemia is an inborn error of metabolism characterized clinically by vomiting, feeding difficulties, hypotonia, and developmental delay, and biochemically by high concentrations of valine in serum and urine (Wada, 1965).

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Hyperleucinemia

MedGen UID:: 451032
•Concept ID:: C0268576
•: Disease or Syndrome

An increased concentration of leucine in the blood.

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Recurrent fever

MedGen UID:: 811468
•Concept ID:: C3714772
•: Sign or Symptom

Periodic (episodic or recurrent) bouts of fever.

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Hyperisoleucinemia

MedGen UID:: 869234
•Concept ID:: C4023657
•: Disease or Syndrome

An increased concentration of isoleucine in the blood.

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Hyperammonemia

MedGen UID:: 1802066
•Concept ID:: C5574662
•: Laboratory or Test Result

An increased concentration of ammonia in the blood.

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Abnormality of metabolism/homeostasis
Abnormality of the nervous system
- Mild global developmental delay
- Polyphagia
Abnormality of the respiratory system
- Tachypnea
Growth abnormality
- Decreased body weight
- Failure to thrive

Recent clinical studies

Diagnosis

Metformin prevents the pathological browning of subcutaneous white adipose tissue.

Auger C, Knuth CM, Abdullahi A, Samadi O, Parousis A, Jeschke MG
Mol Metab 2019 Nov;29:12-23. Epub 2019 Aug 20 doi: 10.1016/j.molmet.2019.08.011. PMID: 31668383 Free PMC Article

Malignant hyperthermia: a pharmacogenetic disease of Ca++ regulating proteins.

Nelson TE
Curr Mol Med 2002 Jun;2(4):347-69. doi: 10.2174/1566524023362429. PMID: 12108947

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