Very Long‐chain Acyl‐coa Dehydrogenase Deficiency: Case Report of Hypoglycaemia and Rhabdomyolysis in a 2‐day‐old Infant

The evaluation of inherited metabolic diseases presenting with rhabdomyolysis from Turkey: Single center experience

“…VLCAD catalyzes the first step of mitochondrial long-chain fatty acid β-oxidation. There are case reports of VLCAD deficiency presenting with rhabdomyolysis in the literature [ [13] , [14] , [15] ]. Rhabdomyolysis as a presenting finding is also seen in rare metabolic diseases such as CPT2 deficiency, primary carnitine deficiency, TANGO2 deficiency and LPIN1 deficiency [ [16] , [17] , [18] , [19] ].…”

Eleven‐year‐old Girl With Acute Genital Ulcers: Was It Sexual Abuse?

“…However, it is known that VCA-IgM may present only in a very short duration or at low concentrations in acute infection and EBNA-IgG may not become detectable in up to 5% of patients with past infection. 3 EBV DNA could be detected coincidentally in a patient with other diseases. However, EBV DNA was the only DNA detected from swab specimens of the oral lesion, genital legion and her plasma.…”