Mutations in CLPB result in a mitochondrial disease that has a number of clinical manifestations.

Chromosome location: 11q13.4

Gene: CLPB

Protein: caseinolytic peptidase B homologue (ClpB)


Inheritance: autosomal recessive


Key clinical features:

(1) cataracts

(2) renal medullary cysts

(3) nephrocalcinosis


Key laboratory features:

(1) 3-methylglutaconic aciduria

(2) neutropenia


Variable findings:

(1) hyper- or hypotonia

(2) progressive brain atrophy

(3) movement disorder (ataxia, tremor, dystonia, absence of voluntary movements, other)

(4) intellectual disability

(5) microcephaly

(6) epilepsy

(7) respiratory insufficiency

(8) swallowing problems

(9) exaggerated startle response as an infant (hyperekplexia)

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