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Correction to: 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces

The Original Article was published on 14 February 2020

Correction to: Orphanet Journal of Rare Diseases (2020) 15:48

In the original article [1], data labelling in Fig. 2 was incorrect by mistake. The total number of patients with data on neurological outcome available was n = 139. The corrected figure is shown below.

The figure legend should read:

Fig. 2
figure 2

Cognitive development and neurologic complications in 139 HMGCLD patients. 61.9% of patients show normal development, while severe mental disability is rather rare in this patient cohort. Neurologic symptoms were documented in 10 patients including spastic hemiparesis or tetraplegia, distinct muscular hypotonia, impairment of vision and hearing, cerebellar ataxia, movement disorders, tremor, clonic movements, mild dysarthria, exaggerated deep tendon reflexes and absence of social contact. Seizures were reported in 13 patients

The paragraph on the neurological outcome on page 3 also contains one wrong number and should read “Information on the neurologic outcome was available on 140 patients (Fig. 2). One 2-year-old patient had trisomy 21 [25] and was therefore not included in the analysis. 86 (86/139; 61.9%) showed normal psychomotor development without neurologic abnormalities. In 9 patients (9/139; 6.5%) only slight abnormalities were reported…”

The authors apologize for these errors and state that these do not change the scientific conclusions of the article in any way.


  1. Grünert SC, Sass JO. 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces. Orphanet J Rare Dis. 2020;15:48.

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Correspondence to Sarah C. Grünert or Jörn Oliver Sass.

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Grünert, S.C., Sass, J.O. Correction to: 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces. Orphanet J Rare Dis 17, 16 (2022).

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