Beta-ketothiolase deficiency (T2) is a rare disorder of ketone body metabolism and isoleucine catabolism. In order to gather patients with this disorder, I ask physicians who have suspected patients with beta-ketothiolase deficiency to contact me.
I don´t have experience in this theme, Because I only work with Lysosomal diseases.
Yes , we have 2 cases with beta -ketothiolase deficiency: a 5 year male patient he is well and younger sister was one year old, died last year.
Beta-KTD is not included in our Slovakia newborn screening. no known ( recognised) case of this disease has been managed in our children hospital till now.
Before starting of MS/MS newborn screening on 2002 one moribund case of newborn was admitted in NICU&PICU of our faculty hospital - in severe MAC pH below 7,0, and glycaemia = zero. Resuscitation care was effective and definitive diagnosis confirmed beta ketothiolase deciciency. This case was published in JIMD - Mrázova. L, et al. 28 : 2005, 235-236 He is in relatively good health state, in our countinuous care.
We have so cases with beta-ketothiolase deficiency , screened by TMS and confirmed by Urine organic acid profile,
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