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How to handle HMG-CoA lyase deficiency and type 1 diabetes? A challenging case report
André Moraisa,b,
Corresponding author
affmorais@gmail.com

Corresponding author.
, Teresa Pinheiroa, Ana Sofia Figueiredoc, Cíntia Castro Correiad,e, Teresa Camposa, Esmeralda Rodriguesa, Elisa Leão Telesa
a Unidade de Doenças Hereditárias do Metabolismo, Serviço de Pediatria, Centro Hospitalar e Universitário de São João, Portugal
b Serviço de Pediatria, Hospital de Braga, Portugal
c Serviço de Pediatria, Centro Hospitalar de Trás-os-Montes e Alto Douro, Portugal
d Unidade de Endocrinologia, Serviço de Pediatria, Centro Hospitalar e Universitário de São João, Portugal
e Faculdade de Medicina da Universidade do Porto, Portugal
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    "textoCompleto" => "<span class="elsevierStyleSections"><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Introduction</span><p id="par0005" class="elsevierStylePara elsevierViewall">3-Hydroxy-3-methylglutaryl-coenzyme A &#40;HMG-CoA&#41; lyase deficiency is an autosomal recessive disorder&#44; caused by mutations in the <span class="elsevierStyleItalic">HMGCL</span> gene&#46; This enzyme is important in the ketogenic pathway and in the last step of leucine catabolism&#44; leading to inadequate ketone body synthesis and accumulation of toxic metabolites of leucine catabolism&#46;<a class="elsevierStyleCrossRef" href="#bib0065"><span class="elsevierStyleSup">1</span></a> It occurs in 1 in 100&#44;000 live neonates and is more common in Saudi Arabia&#44; Portugal&#44; Spain and Pakistan&#44; with a high incidence of parental consanguineous marriage&#46;<a class="elsevierStyleCrossRef" href="#bib0070"><span class="elsevierStyleSup">2</span></a> Although there is a considerable heterogeneity&#44; it usually presents with vomiting&#44; hypotonia and lethargy in the first year of life&#46; Hypoketotic hypoglycemia&#44; metabolic acidosis and hepatomegaly are common&#46;<a class="elsevierStyleCrossRef" href="#bib0075"><span class="elsevierStyleSup">3</span></a> The primary aim of management is rigorous emergency management with a high carbohydrate intake during infections&#44; avoiding extended fasting&#44; with dietary protein&#44; and possibly&#44; fat restriction&#46; Carnitine supplementation is usually prescribed&#46;<a class="elsevierStyleCrossRef" href="#bib0080"><span class="elsevierStyleSup">4</span></a></p><p id="par0010" class="elsevierStylePara elsevierViewall">Type 1 diabetes &#40;T1D&#41; is a chronic disease wherein there is an absence of insulin production&#44; resulting in hyperglycemia and&#44; in severe cases&#44; ketoacidosis&#46; T1D requires painstaking efforts in order to reduce hyperglycemia while minimizing the risk of hypoglycemia&#46; Most patients with T1D are treated with intensive insulin regimens&#44; either via multiple day injections or continuous subcutaneous insulin infusion&#46;<a class="elsevierStyleCrossRefs" href="#bib0085"><span class="elsevierStyleSup">5&#44;6</span></a> Good dietary adherence is necessary and is associated with better glycemic control in children with T1D&#44; resulting in a reduction of the micro and macrovascular complications and the premature mortality associated with T1D&#46;<a class="elsevierStyleCrossRefs" href="#bib0095"><span class="elsevierStyleSup">7&#44;8</span></a></p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Case report</span><p id="par0015" class="elsevierStylePara elsevierViewall">We present a boy&#44; diagnosed on the first day of life with HMG-CoA lyase deficiency&#44; by early neonatal screening in view of a previous family history &#40;a sister diagnosed by the national neonatal screening program 5 years earlier&#41;&#46; The molecular study verified the presence of two mutations on the HMGCL gene &#8211; c&#46;109 G&#62;T &#40;p&#46;E37X&#41; and c&#46;505&#95;506delTC&#46; According to the classification established by the American College of Medical Genetics and the Association for Molecular Pathology in 2015&#44; these mutations are categorized as strong evidence of pathogenicity &#40;PS1&#41;&#46;<a class="elsevierStyleCrossRef" href="#bib0105"><span class="elsevierStyleSup">9</span></a> Both mutations are present in a state of compound heterozygosity&#44; and prior literature has already identified them as pathogenic&#44; responsible for causing HMG-CoA lyase deficiency&#46; Notably&#44; both parents are carriers of one of the described variants&#59; however&#44; they exhibit no symptoms related to the condition&#46; Apart from his sister&#44; no other affected individuals have been reported in the family&#46;</p><p id="par0020" class="elsevierStylePara elsevierViewall">With a positive result and facing feeding difficulties he was admitted to the Neonatal Intensive Care Unit&#44; where a 10&#37; glucose infusion&#44; carnitine and a leucine-free amino acids mixture were started&#46; He was discharged on day 7 of life without any complications&#46;</p><p id="par0025" class="elsevierStylePara elsevierViewall">During his first years of life&#44; no severe hypoglycemic episodes were described&#44; but he still required hospitalizations&#44; due to infections&#47;food refusal&#44; resolving with glucose infusion&#46; He maintained avoidance of fasting&#44; controlled lipid and protein intake&#44; with an amino acid mixture low in leucine&#44; cornstarch during the night and carnitine supplementation when needed&#44; with good evolution&#46;</p><p id="par0030" class="elsevierStylePara elsevierViewall">At the age of 4&#44; he was admitted to the emergency department with vomiting&#44; polydipsia&#44; polyuria and polyphagia&#46; He had hyperglycemia of 422<span class="elsevierStyleHsp" style=""></span>mg&#47;dL without ketoacidosis and type 1 diabetes was diagnosed&#46; Low levels of c-peptide on diagnosis &#40;0&#46;5<span class="elsevierStyleHsp" style=""></span>ng&#47;mL&#41; confirmed insulinopenia&#46; A scheme of long and short-acting insulin was started&#44; but in order to prepare him for discharge&#44; a continuous subcutaneous insulin infusion was implemented&#46; The investigation showed negative autoimmunity&#44; with negative antibodies to a variety of beta-cell components&#44; such as glutamate decarboxylase-65&#44; islet-antigen-2 and zinc transporter-8&#46; Thyroid antibodies were also negative&#46; He had a slightly positive tissue transglutaminase IgA&#44; with HLA DR3-DQ2 and DR4-DQ8 also positive&#44; but endoscopic biopsy of the duodenum did not confirm a suspicion of celiac disease&#46; Despite the high-risk genotype for developing T1D&#44; his sister&#44; who shares the same genetic condition&#44; did not undergo thorough screening due to her brother&#39;s diagnosis&#46; However&#44; she remains without any symptoms of T1D to date&#46; Furthermore&#44; there was no record of T1D in the family&#44; and only the maternal grandfather had type 2 diabetes&#46;</p><p id="par0035" class="elsevierStylePara elsevierViewall">In the initial months&#44; the patient&#39;s levels of HbA1c consistently persisted above 8&#37;&#44; accompanied by recurrent instances of hyperglycemia&#46; This was attributed to the parents&#8217; reluctance to administer insulin due to the perceived threat of hypoglycemia&#46; The solution entailed the implementation of a hybrid&#44; partially automated system&#44; wherein the sole requirement was the introduction of the carbohydrates to be ingested&#46; As a result of this modification&#44; the parents exhibited a greater sense of ease&#44; and metabolic control during the most recent appointment displayed significant improvement&#46; Historically regarded as the &#8220;gold-standard&#44;&#8221; HbA1c has witnessed a shift in recent years with an increasing utilization of time in range &#40;TIR&#41; in routine clinical care&#46;<a class="elsevierStyleCrossRef" href="#bib0110"><span class="elsevierStyleSup">10</span></a> In this case&#44; although the total daily dose of insulin &#40;including basal and boluses&#41; remained consistent over time&#44; averaging 11 units a day &#40;0&#46;5<span class="elsevierStyleHsp" style=""></span>U&#47;kg&#47;day&#41;&#44; there has been a significant improvement in TIR&#46; In the most recent endocrinology appointment&#44; the patient demonstrated an impressive TIR of 66&#37;&#44; a substantial improvement&#44; when compared to the initial levels of 20&#8211;30&#37;&#46;</p><p id="par0040" class="elsevierStylePara elsevierViewall">Nowadays&#44; besides the insulin treatment&#44; he continues to maintain a protein- and lipid-controlled diet&#44; cornstarch at night and carnitine supplementation&#46; He has normal development and growth&#44; progressing in the 15&#8211;50th percentile &#40;WHO Growth Charts&#41;&#46;</p></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0015">Discussion&#47;Conclusion</span><p id="par0045" class="elsevierStylePara elsevierViewall">The co-occurrence of HMG-CoA deficiency and T1D&#44; two almost antagonistic&#44; complex&#44; chronic diseases&#44; in the same patient is extremely rare&#44; and it is truly a great challenge to control and follow both pathologies in this child with the best results&#46; The absence of ketone bodies can delay the identification of poor T1D control&#44; but on the other hand&#44; might minimize the risk of severe ketoacidosis&#46; After reviewing the literature&#44; there are reports of a single similar case in which a co-occurrence of the described pathologies was also observed&#46; In this case&#44; presented at the 21st European Congress of Endocrinology in 2019&#44; the patient exhibited positive pancreatic autoimmunity &#40;positive anti-glutamate decarboxylase antibodies&#41; and a significantly older age at the diagnosis of T1D&#44; with resultant greater ease in the therapeutic approach&#46;<a class="elsevierStyleCrossRef" href="#bib0115"><span class="elsevierStyleSup">11</span></a></p><p id="par0050" class="elsevierStylePara elsevierViewall">It has been suggested that it may be reasonable to continue a night feed until the age of one year&#44; but for older children&#44; overnight fasting may be safe&#46;<a class="elsevierStyleCrossRef" href="#bib0120"><span class="elsevierStyleSup">12</span></a> For HMG-CoA deficiency&#44; safe overnight fasting is controversial&#44; as is the optimal dietary approach&#44; so the rigorousness of therapy is likely to be influenced by the severity of each case&#46;<a class="elsevierStyleCrossRef" href="#bib0080"><span class="elsevierStyleSup">4</span></a> This particular case showed a child&#44; in the early phases&#44; very well controlled with a protein- and lipid-controlled diet only &#40;plus carnitine supplementation&#41;&#46; After the T1D diagnosis&#44; and despite his glycemic instability&#44; our patient is still avoiding fasting and taking cornstarch at bedtime&#44; with continuous insulin infusion&#44; in order to have a sustained energy supply to the cells that avoids lipid and protein catabolism&#46;</p><p id="par0055" class="elsevierStylePara elsevierViewall">The management of T1D has evolved substantially over the last decades&#44; with the development of new therapeutics such as insulin pumps&#44; continuous glucose monitors and the implementation of intensive insulin therapy&#46; Despite these advances&#44; childhood management of T1D remains very challenging&#46;<a class="elsevierStyleCrossRef" href="#bib0100"><span class="elsevierStyleSup">8</span></a> None of the new therapeutic advances are automated&#44; and&#44; in this particular case&#44; that is an important issue&#46; In this family&#44; the biggest concern was always the occurrence of hypoglycemia&#44; and the parents continue to promote a high intake of carbohydrates&#46; It turns out that&#44; even with a minimal decrease in the glycemic values observed in the glucose sensor in the interstitial fluid &#40;still far from hypoglycemia&#41;&#44; the child is offered fast-acting carbohydrates&#44; resulting in a high number of hyperglycemias&#46;</p><p id="par0060" class="elsevierStylePara elsevierViewall">A long road lies ahead for the optimal glycemic control of T1D in this patient&#44; requiring the support of the multidisciplinary team that works with the child and his family&#44; to manage this challenge&#46;</p></span></span>"
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