Effect of Diet Intervention and Oral Zinc Supplementation on Metabolic Control in Berardinelli-Seip Syndrome

Rocha, Érika Dantas de Medeiros; Leite, Lúcia Dantas; Baracho, Maria de Fátima Paiva; Santos, Maria Goretti do Nascimento; Araújo, Dina Maria de; França, Mardone Cavalcante; Silva, Carlos Antônio Bruno da; Almeida, Maria das Graças; Rezende, Adriana Augusto de; Marchini, Júlio Sérgio; Brandão-Neto, José

doi:10.1159/000313932

Cited by 11 publications

(3 citation statements)

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“…The metabolic effect of a nutritional intervention combined with zinc oral supplementation was studied by de Medeiros Rocha D et al. ( 37 ). The dietary plan consisted in 55% carbohydrates, 30% fats and 15% proteins, with the consumption of whole-grain and low glycemic index food.…”

Section: Discussionmentioning

confidence: 99%

Is it possible to achieve an acceptable disease control by dietary therapy alone in Berardinelli Seip type 1? Experience from a case report

et al. 2023

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Background and objectiveSevere metabolic complications generally manifest at an early age in Berardinelli – Seip congenital lipodystrophy (BSCL) and their management is especially challenging. Nutritional intervention with low lipid diets is considered by experts to be fundamental in treating the disease when associated with medical therapy, however little is known about the beneficial effects of dietary interventions alone.AimTo underline the importance of a well-structured low-fat diet in BSCL patients.Methods and resultsA BSCL male patient strictly followed a hypocaloric hypolipemic diet (60% carbohydrates, 22% fats and 18% proteins) since clinical diagnosis at the age of one year. Interestingly, pharmacological interventions were not required at any point during the follow-up. Aged 16 years the patient was referred to our center. Biochemistry, hormonal evaluation, 75 mg oral glucose tolerance test, cardiac evaluation and abdominal ultrasound were performed, revealing no abnormalities. Genetic analysis and leptin dosage were carried out, confirming the diagnosis of BSCL type 1 (homozygosity for c.493-1G>C pathogenic variant in AGPAT2 gene) and showing undetectable circulating levels of leptin (< 0.2 mcg/L). Diet therapy alone was therefore maintained, scheduling follow-up visits every six months, with acceptable disease control ever since.ConclusionsThis report proves how a low-fat diet is of great help in the management of BSCL and its complications. In addition, a specific hypolipemic diet could be used alone as an effective treatment in selected cases with high compliance and, probably, a milder phenotype.

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Section: Discussionmentioning

confidence: 99%

Is it possible to achieve an acceptable disease control by dietary therapy alone in Berardinelli Seip type 1? Experience from a case report

et al. 2023

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“…Actualmente, se encuentra en investigación el uso de leptina recombinante y suplementos con zinc. 12 El asesoramiento genético es muy importante; se considera el riesgo del 25% de recurrencia y la posibilidad de diagnóstico prenatal.…”

Section: Discussionunclassified

Lipodistrofia congénita generalizada en un paciente con anomalía de Dandy Walker

2014

Arch Argent Pediat

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Arch Argent Pediatr 2014;112(5):e196-e199 / e196Presentación de casos clínicos RESUMEN La asociación entre la lipodistrofia congénita generalizada y la anomalía de Dandy Walker no es habitual. Se reporta el caso de una niña de 1 año de edad que ingresa al hospital a los 4 meses por riesgo social, con diagnóstico de anomalía de Dandy Walker. Durante su internación, se evidencia en forma progresiva aspecto acromegaloide, facies triangular, hirsutismo, lipoatrofia, hipertrofia muscular, clitoromegalia, distensión abdominal con hepatomegalia progresiva e hipertrigliceridemia. Se arriba así al diagnóstico clínico de lipodistrofia congénita generalizada. Se revisan los aspectos clínicos y el seguimiento interdisciplinario para la detección oportuna de insulinorresistencia y diabetes, pubertad precoz, miocardiopatía, entre otras. Respecto de la anomalía de Dandy Walker, se realizan controles evolutivos en búsqueda de la aparición de signos de hipertensión endocraneana. Por el carácter autosómico recesivo de la lipodistrofia congénita generalizada, es importante realizar el asesoramiento genético a los padres. Palabras clave: lipodistrofia generalizada congénita, anomalía de Dandy Walker, resistencia a la insulina, hepatomegalia, hipertrigliceridemia. ABSTRACTThe objective of this study is to describe the unexpected association between the congenital generalized lipodystrophy (CGL) and Dandy Walker anomaly. We report the case of a 1-year-old infant who was hospitalized at her fourth month of life with Dandy Walker anomaly diagnosis and an increased social risk. During her hospitalization, she developed progressively: acromegaloid aspect, triangular fascia, hirsutism, lipoatrophy, muscle hypertrophy, clitoromegaly, abdominal distention, progressive hepatomegaly, and hypertriglyceridemia. This led to the clinical diagnosis of congenital generalized lipodystrophy. Importance should be given to the examination of clinical aspects as well as the interdisciplinary follow-up for proper detection of insulin resistance and diabetes, early puberty, cardiomyopathy, among others. In case of Dandy Walker anomaly, it should be checked the evolution to search intracranial hypertension signs. Lipodistrofia congénita generalizada en un paciente con anomalía de Dandy Walker Congenital generalized lipodystrophy in pacient with Dandy Walker anomalyDue to its autosomal recessive nature, it is important to provide genetic counseling to the parents.

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“…The analysis of food records of a group of Brazilian CGL patients has shown a daily intake of around 4,000kcal. Although this value can be considered high in comparison to the calculated dietary reference intake (DRI) of the patients (around 2,600 kcal/day), the authors did not include eutrophic individuals in their study [33].…”

Section: Plos Onementioning

confidence: 99%

Altered acylated ghrelin response to food intake in congenital generalized lipodystrophy

et al. 2021

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Background Patients with congenital generalized lipodystrophy (CGL) have very low levels of leptin and are described as having a voracious appetite. However, a direct comparison between CGL and eutrophic individuals is lacking, regarding both appetite parameters and acylated ghrelin, the hormone form that is active in acute food intake stimulation. The objective of the present study was to address whether and in what extent the subjective appetite parameters and acylated ghrelin response to a meal are affected in CGL individuals, in comparison to eutrophic individuals. Additionally, an obese group was included in the study, to allow the comparison between a leptin-resistant and a leptin-deficient condition on these aspects. Methods Eutrophic controls (EUT, n = 10), obese subjects (OB, n = 10) and CGL (n = 11) were fasted overnight and then received an ad libitum meal. Blood was collected and the visual analogue scale was applied before and 90 minutes after the meal. An additional blood sample was collected at 60 minutes for ghrelin determination. Results The CGL patients showed low fasting levels of leptin and adiponectin, dyslipidemia, and insulin resistance. The caloric intake was similar among the 3 groups. However, both CGL (p = 0.02) and OB (p = 0.04) had shorter satiation times than EUT. The CGL patients also had lower satiety time (p = 0.01) and their sensation of hunger was less attenuated by the meal (p = 0.03). Fasting acylated ghrelin levels were lower in CGL than in EUT (p = 0.003). After the meal, the levels tended to decrease in EUT but not in CGL and OB individuals. Conclusion The data indicate that, although not hyperphagic, the CGL patients present appetite disturbances in relation to eutrophic individuals. Their low fasting levels of acylated ghrelin and the absence of the physiological drop after meal intake suggest a role of these disturbances in hunger attenuation and satiety but not in acute satiation.

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Effect of Diet Intervention and Oral Zinc Supplementation on Metabolic Control in Berardinelli-Seip Syndrome

Cited by 11 publications

References 69 publications

Is it possible to achieve an acceptable disease control by dietary therapy alone in Berardinelli Seip type 1? Experience from a case report

Is it possible to achieve an acceptable disease control by dietary therapy alone in Berardinelli Seip type 1? Experience from a case report

Lipodistrofia congénita generalizada en un paciente con anomalía de Dandy Walker

Altered acylated ghrelin response to food intake in congenital generalized lipodystrophy

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