3-Hydroxyisobutyryl-Coa Hydrolase Deficiency in an Iranian Child With Novel Hibch Compound Heterozygous Mutations

3-Hydroxyisobutyryl-Coa Hydrolase Deficiency in an Iranian Child With Novel Hibch Compound Heterozygous Mutations Publisher

Karimzadeh P¹ ; Saberi M² ; Sheidaee K¹ ; Nourbakhsh M³ ; Keramatipour M²

Source: Clinical Case Reports Published:2019

Abstract

We report a patient presenting with developmental delay, Leigh-like abnormalities on MRI and elevated 3-hydroxyisovaleric acid levels. Upon whole-exome sequencing, he was diagnosed with 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency, and hence subjected to specific dietary treatment. HIBCH deficiency should be considered in the differential diagnosis of Leigh-like disease and/or organic aciduria. © 2019 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.

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Style	Citing Format
MLA	Karimzadeh P, et al.. "3-Hydroxyisobutyryl-Coa Hydrolase Deficiency in an Iranian Child With Novel Hibch Compound Heterozygous Mutations." Clinical Case Reports, vol. 7, no. 2, 2019, pp. 375-380.
APA	Karimzadeh P, Saberi M, Sheidaee K, Nourbakhsh M, Keramatipour M (2019). 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency in an Iranian Child With Novel Hibch Compound Heterozygous Mutations. Clinical Case Reports, 7(2), 375-380.
Chicago	Karimzadeh P, Saberi M, Sheidaee K, Nourbakhsh M, Keramatipour M. "3-Hydroxyisobutyryl-Coa Hydrolase Deficiency in an Iranian Child With Novel Hibch Compound Heterozygous Mutations." Clinical Case Reports 7, no. 2 (2019): 375-380.
Harvard	Karimzadeh P et al. (2019) '3-Hydroxyisobutyryl-Coa Hydrolase Deficiency in an Iranian Child With Novel Hibch Compound Heterozygous Mutations', Clinical Case Reports, 7(2), pp. 375-380.
Vancouver	Karimzadeh P, Saberi M, Sheidaee K, Nourbakhsh M, Keramatipour M. 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency in an Iranian Child With Novel Hibch Compound Heterozygous Mutations. Clinical Case Reports. 2019;7(2):375-380.
BibTex	@article{ author = {Karimzadeh P and Saberi M and Sheidaee K and Nourbakhsh M and Keramatipour M}, title = {3-Hydroxyisobutyryl-Coa Hydrolase Deficiency in an Iranian Child With Novel Hibch Compound Heterozygous Mutations}, journal = {Clinical Case Reports}, volume = {7}, number = {2}, pages = {375-380}, year = {2019} }
RIS	TY - JOUR AU - Karimzadeh P AU - Saberi M AU - Sheidaee K AU - Nourbakhsh M AU - Keramatipour M TI - 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency in an Iranian Child With Novel Hibch Compound Heterozygous Mutations JO - Clinical Case Reports VL - 7 IS - 2 SP - 375 EP - 380 PY - 2019 ER -

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