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<span>CLPB deficiency</span>
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<span class="page-url print-only">URL of this page: https://medlineplus.gov/genetics/condition/clpb-deficiency/</span>
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<h1>CLPB deficiency</h1>
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<div class="mp-exp exp-full" data-bookmark="description">
<h2>Description</h2>
<section><div class="mp-content"><p>CLPB deficiency is a rare disorder characterized by neurological problems and a shortage of infection-fighting white blood cells (neutropenia). Signs and symptoms of the condition develop by early childhood, and their severity varies widely among affected individuals.</p><p>In the most severely affected individuals, features of CLPB deficiency are apparent in infancy and sometimes at birth. Affected babies have serious neurological problems, which can include an exaggerated startle reaction (hyperekplexia) to unexpected stimuli such as loud noises, reduced movement, muscle tone that is either decreased (hypotonia) or increased (hypertonia), swallowing problems, difficulty breathing, and recurrent seizures (epilepsy). These babies may also have movement abnormalities, such as difficulty coordinating movements (ataxia), involuntary tensing of the muscles (dystonia), or uncontrolled movements of the body (dyskinesia). In addition, these babies have recurrent, life-threatening infections due to severe neutropenia. Affected individuals are at risk of developing a blood cell disorder called myelodysplastic syndrome or a form of blood cancer called <a class="image-modal" data-alt="Normally, stem cells become several types of fully differentiated immune cells. In leukemia, the stem cells produce only poorly differentiated immune cells." data-caption="" data-credit="joshya/Shutterstock.com" data-filepath="images/PX0000PO_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000PO" data-sourceurl="" data-title="Abnormal blood cell development in leukemia" href="https://medlineplus.gov/images/PX0000PO_PRESENTATION.jpeg" id="PX0000PO_1" title="Show image">leukemia<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>. Because of their severe health problems, affected infants usually live only a few weeks or months.</p><p>Moderately affected individuals have neurological problems similar to those described above, although they are less severe. They include hypotonia, muscle stiffness (spasticity), and movement abnormalities. Other features of moderate CLPB deficiency include epilepsy and mild to severe intellectual disability. Neutropenia in these individuals can lead to recurrent infections, although they are not life-threatening.</p><p>Mildly affected individuals have no neurological problems, and although they have neutropenia, it does not increase the risk of infections. Some people with mild CLPB deficiency develop deposits of calcium in the kidneys (nephrocalcinosis) or kidney (renal) cysts.</p><p>Many people with mild, moderate, or severe CLPB deficiency have clouding of the lenses of the eyes (<a class="image-modal" data-alt="A normal eye with a clear lens compared to an eye with cataract, which has a cloudy lens." data-caption="" data-credit="Alila Medical Media/Shutterstock.com" data-filepath="images/PX000100_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX000100" data-sourceurl="" data-title="Cataract" href="https://medlineplus.gov/images/PX000100_PRESENTATION.jpeg" id="PX000100_2" title="Show image">cataracts<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>) from birth (congenital) or beginning in infancy.</p><p>CLPB deficiency is associated with increased levels of a substance called 3-methylglutaconic acid in the urine (3-methylglutaconic aciduria). This abnormality, which provides a clue to the diagnosis, does not appear to cause any health problems.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="frequency">
<h2>Frequency</h2>
<section><div class="mp-content"><p>CLPB deficiency is a rare disorder; the prevalence is not known. At least 26 cases have been reported in the medical literature.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="causes">
<h2>Causes</h2>
<section><div class="mp-content"><p>CLPB deficiency is caused by mutations in the <i><a data-pid="19775" href="https://medlineplus.gov/genetics/gene/clpb/">CLPB</a></i> gene, which provides instructions for making a protein whose function is unknown. Based on its similarity to a protein in other organisms, the CLPB protein is thought to help unfold misfolded proteins so they can be refolded correctly. If not fixed, misfolded proteins cannot function properly and may be damaging to cells.</p><p><i>CLPB</i> gene mutations likely reduce or eliminate the amount of functional CLPB protein. The severity of the condition is thought to be related to the amount of functional protein remaining: severe CLPB deficiency is likely caused by a complete absence of CLPB protein, while moderate and mild CLPB deficiency result when some functional CLPB protein is produced. Researchers are unsure how reduction or absence of this protein leads to the signs and symptoms of CLPB deficiency.</p></div>
</section>
<section>
<div class="related-genes mp-exp exp-full">
<h3>Learn more about the gene associated with CLPB deficiency</h3>
<ul class="relatedmp">
<li><a href="https://medlineplus.gov/genetics/gene/clpb/">CLPB</a></li>
</ul>
</div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="inheritance">
<h2>Inheritance</h2>
<section><div class="mp- mp-content"><p>This condition is inherited in an <a class="image-modal" data-alt="Both parents carry one copy of a mutated gene. In the next generation, one child is affected with the condition, two children are carriers, and one is unaffected and not a carrier." data-caption="" data-credit="U.S. National Library of Medicine" data-filepath="images/PX0000A4_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000A4" data-sourceurl="" data-title="Autosomal recessive inheritance" href="https://medlineplus.gov/images/PX0000A4_PRESENTATION.jpeg" id="PX0000A4_1" title="Show image">autosomal recessive pattern<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.</p></div>
</section>
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<div class="mp-exp exp-full" data-bookmark="synonyms">
<h2>Other Names for This Condition</h2>
<section>
<ul class="bulletlist">
<li>3-methylglutaconic aciduria type 7</li> <li>3-methylglutaconic aciduria type VII</li> <li>3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia</li> <li>3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome</li> <li>MEGCANN</li> <li>MGA7</li> <li>MGCA7</li>
</ul>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="resources">
<h2>Additional Information & Resources</h2>
<section>
<div class="mp-content">
<h2>Genetic Testing Information</h2>
<ul>
<li><a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C5676893/" target="TheNewWin">Genetic Testing Registry: 3-methylglutaconic aciduria, type VIIB</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Patient Support and Advocacy Resources</h2>
<ul>
<li><a href="https://rarediseases.org/" target="TheNewWin">National Organization for Rare Disorders (NORD)</a></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Catalog of Genes and Diseases from OMIM</h2>
<ul>
<li><a href="https://omim.org/entry/616271" target="TheNewWin">3-METHYLGLUTACONIC ACIDURIA, TYPE VIIB; MGCA7B</a></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Scientific Articles on PubMed</h2>
<ul>
<li><a href="https://pubmed.ncbi.nlm.nih.gov/?term=%28%28CLPB+deficiency%29+OR+%283-methylglutaconic+aciduria+with+cataracts,+neurologic+involvement,+and+neutropenia%29+OR+%28CLPB+mutation%29+OR+%28CLPB+variants%29+OR+%28CLPB+disruption%29%29+AND+english%5Bla%5D+AND+human%5Bmh%5D+AND+%22last+3600+days%22%5Bdp%5D" target="TheNewWin">PubMed</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="references">
<h2>References</h2>
<section>
<div class="mp-content">
<ul>
<li>Capo-Chichi JM, Boissel S, Brustein E, Pickles S, Fallet-Bianco C, Nassif C,
Patry L, Dobrzeniecka S, Liao M, Labuda D, Samuels ME, Hamdan FF, Vande Velde C,
Rouleau GA, Drapeau P, Michaud JL. Disruption of CLPB is associated with
congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria. J
Med Genet. 2015 May;52(5):303-11. doi: 10.1136/jmedgenet-2014-102952. Epub 2015
Feb 3. <a href="https://pubmed.ncbi.nlm.nih.gov/25650066" target="TheNewWin">Citation on PubMed</a></li>
<li>Kanabus M, Shahni R, Saldanha JW, Murphy E, Plagnol V, Hoff WV, Heales S,
Rahman S. Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis
and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein
disaggregation. J Inherit Metab Dis. 2015 Mar;38(2):211-9. doi:
10.1007/s10545-015-9813-0. Epub 2015 Jan 18. <a href="https://pubmed.ncbi.nlm.nih.gov/25595726" target="TheNewWin">Citation on PubMed</a></li>
<li>Saunders C, Smith L, Wibrand F, Ravn K, Bross P, Thiffault I, Christensen M,
Atherton A, Farrow E, Miller N, Kingsmore SF, Ostergaard E. CLPB variants
associated with autosomal-recessive mitochondrial disorder with cataract,
neutropenia, epilepsy, and methylglutaconic aciduria. Am J Hum Genet. 2015 Feb
5;96(2):258-65. doi: 10.1016/j.ajhg.2014.12.020. Epub 2015 Jan 15. <a href="https://pubmed.ncbi.nlm.nih.gov/25597511" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4320254/" target="TheNewWin">Free article on PubMed Central</a></li>
<li>Wortmann SB, Wevers RA. CLPB Deficiency. 2016 Nov 22 [updated 2022 Mar 10].
In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors.
GeneReviews(R) [Internet]. Seattle (WA): University of Washington,
Seattle; 1993-2025. Available from http://www.ncbi.nlm.nih.gov/books/NBK396257/
<a href="https://pubmed.ncbi.nlm.nih.gov/27891836" target="TheNewWin">Citation on PubMed</a></li>
<li>Wortmann SB, Zietkiewicz S, Kousi M, Szklarczyk R, Haack TB, Gersting SW,
Muntau AC, Rakovic A, Renkema GH, Rodenburg RJ, Strom TM, Meitinger T,
Rubio-Gozalbo ME, Chrusciel E, Distelmaier F, Golzio C, Jansen JH, van Karnebeek
C, Lillquist Y, Lucke T, Ounap K, Zordania R, Yaplito-Lee J, van Bokhoven H,
Spelbrink JN, Vaz FM, Pras-Raves M, Ploski R, Pronicka E, Klein C, Willemsen MA,
de Brouwer AP, Prokisch H, Katsanis N, Wevers RA. CLPB mutations cause
3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability,
congenital neutropenia, cataracts, movement disorder. Am J Hum Genet. 2015 Feb
5;96(2):245-57. doi: 10.1016/j.ajhg.2014.12.013. Epub 2015 Jan 15. <a href="https://pubmed.ncbi.nlm.nih.gov/25597510" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4320260/" target="TheNewWin">Free article on PubMed Central</a></li>
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<h2>Understanding Genetics</h2>
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