Investigation of class-F power amplifier in the presence of the second and fourth harmonics of input voltage.

In this paper, a thorough theoretical investigation of high-efficiency class-F power amplifier (PA) is undertaken to drive, considering the second and fourth harmonics of input voltage. The precise analytical expressions of the gate-source voltage, drain current, output power, and efficiency are extracted. Maximum normalized output power and maximum drain efficiency from the initial phase and amplitude of the second and fourth harmonics of input gate-voltage can be achieved. The simulation of class-F PA using a GaN CGH40010F transistor has been done to validate the theoretical analysis. Addition of the fourth harmonic gate voltage along with the second harmonic improves the output power and efficiency of the PA by 0.7 dBm and 4.1%. Based on the simulation with realistic elements, a highly efficient PA operating from 1.8 to 2.2 GHz is implemented. The fabricated PA provides an efficiency of 72-87.6%, PAE of 65-80% and an output power of 39.3-41 dBm.

Determination of Bone Density by DEXA Method Based on Bone Age and its Comparison with Chronological Age in Chronic Patients.

Background and Objective: Given the growing awareness about the important role of children's age in building bone for a person's life, physicians need to assess bone health in high-risk children for bone density disorders more than before to optimize their bones' density and prevent osteoporosis in future. The aim of this study was to evaluate bone density based on chronological and bone age. Materials and Methods: In this cross-sectional study, 80 Patients who have been referred for bone density to the Osteoporosis Centre of the Children's Medical Centre over a one-year period (spring 98 to spring 99) were studied. Bone density was performed for all patients by using DEXA method. Results: The z-score mean chronological age for the lumbar spine was -0.8± 1.85 years and bone age was -0.58±1.64 years. The z-score mean chronological age for femoral bone was -1.6±1.02 years and bone age was -1.32± 1.4 years. Conclusion: Results showed that in all patients, the difference in the mean Z score of chronological age and bone age of the spine between patients was not significant but for femur was significant. Also, use of corticosteroids leads to significant difference between the two age groups' z-score in femur and spine.

Pediatric endocrinopathies related to COVID-19: an update.

BACKGROUND: Coronavirus disease 2019 (COVID-19) is a disease caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the seventh coronavirus to be linked to human disease. The SARS-CoV-2 virus may have several pathophysiologic interactions with endocrine systems, resulting in disruptions in glucose metabolism, hypothalamus and pituitary function, adrenal function, and mineral metabolism. An increasing amount of evidence demonstrates both the influence of underlying endocrine abnormalities on the outcome of COVID-19 and the effect of the SARS-CoV-2 virus on endocrine systems. However, a systematic examination of the link to pediatric endocrine diseases has been missing. DATA SOURCES: The purpose of this review is to discuss the impact of SARS-CoV-2 infection on endocrine systems and to summarize the available knowledge on COVID-19 consequences in children with underlying endocrine abnormalities. For this purpose, a literature search was conducted in EMBASE, and data that were discussed about the effects of COVID-19 on endocrine systems were used in the current study. RESULTS: Treatment suggestions were provided for endocrinopathies associated with SARS-CoV-2 infection. CONCLUSIONS: With the global outbreak of COVID-19, it is critical for pediatric endocrinologists to understand how SARS-CoV-2 interacts with the endocrine system and the therapeutic concerns for children with underlying problems who develop COVID-19. While children and adults share certain risk factors for SARS-CoV-2 infection sequelae, it is becoming obvious that pediatric responses are different and that adult study results cannot be generalized. While pediatric research gives some insight, it also shows the need for more study in this area.

Hepato-Protection Effect of Curcumin Against Methylphenidate-Induced Hepatotoxicity: Histological and Biochemical Evidences.

Background: As a psychostimulant agent, methylphenidate (MPH) abuse can cause serious liver damage. Studies have documented the hepatoprotective impacts of curcumin on liver damage. According to this definition, the purpose of this study is to explain the hapatoprotective effects of curcumin against the hepatotoxicity induced by MPH. Methods: Seventy rats were equally divided into seven groups (10 rats per group). Groups 1 and 2 received normal saline (0.7 mL/rat) and MPH (10 mg/kg), respectively for 21 days. Groups 3, 4, 5, and 6 concurrently received MPH (10 mg/ kg) and curcumin (10, 20, 40, and 60 mg/kg, respectively) for 21 days. Group 7 was treated with curcumin (60 mg/kg) alone for 21 days. The hepatic function test key enzymes such as AST, ALP, and histology of liver tissue (ALT), and alkaline phosphatase (ALP) levels was studied in the blood samples, and also, the histopathological changes and cell density changes were evaluated in the liver tissue. Results: The latest studies have shown that the administration of MPH induces rises in the AST, ALT, and ALP levels and induces degeneration changes in histopathology, whereas curcumin administration at doses of 40 and 60 mg/kg reduced the elevation of MPH-induced hepatic enzyme and inhibited histopathological degeneration in the MPH-treated classes. Curcumin alone (60 mg/kg) did not alter the biochemical and histological parameters. Conclusions: Curcumin can function as a hepatoprotective agent against MPH-induced hepatotoxicity.

A suggested screening method for hypothyroidism in very preterm and/or very low birth weight neonates.

OBJECTIVE: To assess thyroid function in very preterm or very low birth weight (VLBW) neonates by measuring combination levels of thyroid-stimulating hormone TSH and free T4 (FT4). METHODS: Inclusion criteria were defined as all very preterm (gestational age <32 weeks) or VLBW (birth weight ≤1500g) neonates with initial Thyroid Function Test (TFT) who were admitted to the Neonatal Intense Care Unit (NICU) of Taleghani Hospital, Tabriz, Iran, from March 2015 to March 2016. Exclusion criteria were the absence of initial TFT with any major congenital anomaly. The primary value of TSH was evaluated at 3-5 days, and mean levels of TSH with FT4 were measured at 2, 4, and 8-weeks. RESULTS: Ninety-five neonates with a mean gestational age of 29.5 weeks were included, and the mean levels of thyrotropin and FT4 at postnatal week two were 4.4mIU/L and 1.4ng/dL, respectively. Two of the patients had serum TSH concentration >25mIU/L that was considered as permanent primary hypothyroidism. Among nine hypothyroxinemia cases, two had elevated TSH levels (10.8±0.4mIU/L at the end of 8 weeks) and normal FT4 concentration, and were considered transient hypothyroidism. Seven cases had normal TSH levels (1.6±1.0mIU/L at 2 weeks, 3.5±2.8mIU/L at 8 weeks) and low FT4 concentrations. CONCLUSIONS: Combined venous TSH and FT4 concentration at the end of the first postnatal month can be an efficient approach for detecting neonatal hypothyroidism.

Molecular and clinical characterization of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) in Iranian non-Jewish patients: report of two novel AIRE gene pathogenic variants.

OBJECTIVE: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) is a rare autosomal recessive systemic autoimmune disease caused by mutations in the autoimmune regulator (AIRE) gene. Incidence of this genetic disorder is estimated at 1/90,000-200,000 worldwide and 1/6500-9000 in genetically isolated populations such as Iran. Here, we investigated AIRE gene mutations in eight independent Iranian non-Jewish families. METHODS: We sequenced the coding regions of the AIRE gene and documented mutations which were further confirmed in respective parents. RESULTS: In total, 11 cases from 8 independent families were recruited. Mucosal candidiasis, Addison's disease and hypoparathyroidism were the most common clinical manifestations in these patients. One novel homozygous splice acceptor mutation (c.308-1G>C), and one novel heterozygous stop-gain mutation (c.1496delC) combined with a known heterozygous c.232T>C missense mutation were found. Moreover, we observed previously described splice donor (c.1095+2T>A), frameshift (c.967-979del), stop-gain (c.415C>T), and missense (c.62C>T) mutations among the patients. All results were co-segregated in parents. CONCLUSION: Here, we reported two novel mutations in the AIRE gene leading to APECED. Our data could provide insight into the phenotypic and genotypic spectrum of APECED in the non-Jewish Iranian population. These findings, in addition to future functional assays, can elucidate disease-causing mechanisms related to the AIRE gene and assist in genetic counseling and diagnosis.

Early and delayed puberty among Iranian children with obesity.

BACKGROUND: It has been hypothesized that puberty onset is disturbed as the children gain more weight. This study aimed to investigate the prevalence and risk factors of the puberty disturbances among children with obesity in Tehran, Iran. METHODS: This study was performed as a cross-sectional study, investigating 168 children with obesity from Tehran, Iran, from March 2018 to February 2019. BMI percentile more than 95% was considered as the inclusion criteria. RESULTS: Seventy-eight (46.4%) of the assessed children were females. The mean weight, height, BMI were 89.65 (±11.01) kg, 169.88 (±8.32) centimeters and 31.13(±3.8) kg/m2, respectively. There was no difference between males and females regarding the early puberty (P=0.098), but delayed puberty was significantly higher among males (P=0.029). Our results indicated higher birth weight is associated with earlier onset of obesity in children (P=0.044). CONCLUSIONS: Our study demonstrated no association between obesity and early puberty in girls; however, boys with obesity had delayed puberty. We also found higher birth weight is associated with earlier onset of obesity, putting light on the importance of preventive interventions.

A suggested screening method for hypothyroidism in very preterm and/or very low birth weight neonates / Método de triagem para hipotireoidismo sugerido em recém-nascidos muito prematuros ou de muito baixo peso

ABSTRACT Objective: To assess thyroid function in very preterm or very low birth weight (VLBW) neonates by measuring combination levels of thyroid-stimulating hormone TSH and free T4 (FT4) Methods: Inclusion criteria were defined as all very preterm (gestational age <32 weeks) or VLBW (birth weight ≤1500g) neonates with initial Thyroid Function Test (TFT) who were admitted to the Neonatal Intense Care Unit (NICU) of Taleghani Hospital, Tabriz, Iran, from March 2015 to March 2016. Exclusion criteria were the absence of initial TFT with any major congenital anomaly. The primary value of TSH was evaluated at 3-5 days, and mean levels of TSH with FT4 were measured at 2, 4, and 8-weeks. Results: Ninety-five neonates with a mean gestational age of 29.5 weeks were included, and the mean levels of thyrotropin and FT4 at postnatal week two were 4.4mIU/L and 1.4ng/dL, respectively. Two of the patients had serum TSH concentration >25mIU/L that was considered as permanent primary hypothyroidism. Among nine hypothyroxinemia cases, two had elevated TSH levels (10.8±0.4mIU/L at the end of 8 weeks) and normal FT4 concentration, and were considered transient hypothyroidism. Seven cases had normal TSH levels (1.6±1.0mIU/L at 2 weeks, 3.5±2.8mIU/L at 8 weeks) and low FT4 concentrations. Conclusions: Combined venous TSH and FT4 concentration at the end of the first postnatal month can be an efficient approach for detecting neonatal hypothyroidism.

RESUMO Objetivo: Avaliar a função da tireoide em recém-nascidos muito prematuros ou de muito baixo peso por meio dos níveis de combinação de TSH e T4 livre (FT4). Métodos: Os critérios de inclusão foram: todos os recém-nascidos muito prematuros (idade gestacional <32 semanas) ou de muito baixo peso (peso ao nascer ≤500g) com teste de função tireoidiana inicial e que foram admitidos na Unidade de Terapia Intensiva Neonatal do Hospital de Taleghani, Tabriz, Irã, de março de 2015 a março de 2016. Os critérios de exclusão foram: ausência de TFT inicial com qualquer anomalia congênita importante. Resultados: 95 neonatos com idade gestacional média de 29.5 semanas foram incluídos, e os níveis médios de tireotropina e FT4 na 2ª semana pós-natal foram 4.4mIU/L e 1.4ng/dL, respectivamente. Dois dos pacientes apresentavam concentração sérica de TSH >25mIU/L, considerada hipotireoidismo primário permanente. Entre nove casos de hipotiroxinemia, dois tinham níveis elevados de TSH (10.8±0.4mIU/L ao final de 8 semanas) e concentração normal de FT4 e foram considerados hipotireoidismo transitório. Sete casos tinham níveis normais de TSH (1,6±1,0mIU/L em 2 semanas, 3,5±2,8mIU/L em 8 semanas) e baixas concentrações de FT4. Conclusões: A concentração combinada de TSH e FT4 venoso no final do primeiro mês pós-natal pode ser uma abordagem eficiente para detectar hipotireoidismo neonatal.

Placenta derived Mesenchymal Stem Cells transplantation in Type 1 diabetes: preliminary report of phase 1 clinical trial.

INTRODUCTION: Type 1 Diabetes Mellitus (T1DM) is an auto immune reaction against insulin secreting beta cells. Exogenous insulin administration is the only standard treatment for T1DM. However, despite tight glycemic control many patients will develop chronic life-threatening complications. Recently, stem cell transplantation has been suggested as a novel treatment for eliminating the beta cell damage and promoting their regeneration by modulating auto-immunity. To our knowledge; this is the first preliminary report of placenta derived MSCs (PLMSCs) transplantation in juvenile T1DM. METHOD: An Open label non-randomized phase 1 clinical trial was designed to evaluate the safety of PLMSCs transplantation in new onset juvenile T1DM (IRCT20171021036903N2). PLMSCs were manufactured in our clean room facility using a Xeno-free/GMP compliant protocol. The first series of patients (n = 4) received one dose of1 × 106 PLMSCs/kg intravenously. Diabetic clinical and laboratory parameters and side effects were evaluated weekly for the first month, monthly for 6 months, and then every 3 month till 1 year. RESULTS: Serious adverse events were not seen during 1 year follow-up. Partial remission and hypoglycemic attacks were happened one month after transplantation in two patients. ZnT8-Ab decreased till month 3 and then increased again in all patients. Anti Gad-Ab decreased till month 3 of follow up then increased. DISCUSSION: This preliminary report of our phase I clinical trial demonstrated the short term safety of PLMSCs transplantation in juvenile T1DM. To prove the long term safety and probable efficacy of this treatment more investigations are needed. TRIAL REGISTRATION: Iranian Registry of Clinical Trials: IRCT20171021036903N2.

Genotype-phenotype correlation and description of two novel mutations in Iranian patients with glycogen storage disease 1b (GSD1b).

BACKGROUND: Glycogen storage disease (GSD) is a rare inborn error of the synthesis or degradation of glycogen metabolism. GSD1, the most common type of GSD, is categorized into GSD1a and GSD1b which caused by the deficiency of glucose-6-phosphatase (G6PC) and glucose-6-phosphate transporter (SLC37A4), respectively. The high rates of consanguineous marriages in Iran provide a desirable context to facilitate finding the homozygous pathogenic mutations. This study designates to evaluate the clinical and genetic characteristics of patients with GSD1b to assess the possible genotype-phenotype correlation. RESULTS: Autozygosity mapping was performed on nineteen GSD suspected families to suggest the causative loci. The mapping was done using two panels of short tandem repeat (STR) markers linked to the corresponding genes. The patients with autozygous haplotype block for the markers flanking the genes were selected for direct sequencing. Six patients showed autozygosity in the candidate markers for SLC37A4. Three causative variants were detected. The recurrent mutation of c.1042_1043delCT (p.Leu348Valfs*53) and a novel missense mutation of c.365G > A (p.G122E) in the homozygous state were identified in the SLC37A4. In silico analysis was performed to predict the pathogenicity of the variants. A novel whole SLC37A4 gene deletion using long-range PCR and sequencing was confirmed as well. Severe and moderate neutropenia was observed in patients with frameshift and missense variants, respectively. The sibling with the whole gene deletion has shown both severe neutropenia and leukopenia. CONCLUSIONS: The results showed that the hematological findings may have an appropriate correlation with the genotype findings. However, for a definite genotype-phenotype correlation, specifically for the clinical and biochemical phenotype, further studies with larger sample sizes are needed.

Primary creatine deficiency syndrome as a potential missed diagnosis in children with psychomotor delay and seizure: case presentation with two novel variants and literature review.

Creatine is the main source of energy for the brain. Primary creatine deficiency syndromes (PCDSs) are inborn error of metabolism of creatine synthesis. Symptoms of central nervous system involvement are the most common clinical manifestations in these disorders. We reviewed medical records of all genetically confirmed patients diagnosed by whole exome sequencing who were referred to Myelin and Neurodegenerative Disorders Clinic, Children's Medical Center, Tehran, Iran, from May 2016 to Dec 2018. A literature review was conducted on clinical and genomic variability of PCDS to compare our patients with previously reported cases. We report two patients with creatine deficiency among a cohort of 550 registered cases out of which 200 patients had a genetically confirmed neurodegenerative disorder diagnosis. The main complain in the first patient with creatine transporter (CRTR) deficiency was seizure and genetic study in this patient identified a novel hemizygote variant of "c.92 > T; p.Pro31Leu" in the first exon of SLC6A8 gene. The second patient with guanidinoacetate methyltransferase (GAMT) deficiency had an unknown motor and speech delay as the striking manifestation and molecular assay revealed a novel homozygote variant of "c.134G > A; p.Trp45*" in the first exon of GAMT gene. PCDSs usually are associated with nonspecific neurologic symptoms. The first presented case had a mean delayed diagnosis of 5 years. Therefore, in children with unexplained neurologic features including developmental delay and/or regression, mental disability and repeated seizures without any significant findings in metabolic studies, PCDSs can be considered as a differential diagnosis and molecular analysis can be helpful for the precise diagnosis and treatment.

Molecular investigation of mutations in androgen receptor and 5-alpha-reductase-2 genes in 46,XY Disorders of Sex Development with normal testicular development.

In this study, we aimed to determine androgen receptor (AR) and SRD5A2 gene mutations in 45 patients characterised by 46,XY Disorders of Sex Differentiation (DSD) signs with normal testicular development referred to the Children's Medical Center from February 2015 to September 2017. Karyotype and sex hormone analyses were performed. Cytogenetic investigation showed that seven patients were 46,XX DSD, six patients were chromosomal DSD and 32 patients were 46,XY DSD. Eight exons of the AR gene and five exons of the SRD5A2 gene were amplified. Two cases were affected with androgen insensitivity syndrome (AIS) (missense mutation on exon 7, position c.3637 G>A: p.R841H and position c.3610 G>A: p.R832Q), one case was affected with 5-alpha-reductase deficiency type 2 (missense mutation at c.578A>G: p.N193S on exon 4), and 22 cases (88%) did not demonstrate AIS or 5α-RD2 gene abnormality. Due to the great impact of these disorders on human lifestyle, evaluation of genes involved can improve genetic counselling and therapeutic management. We focused on the AR and SRD5A2 genes in patients with 46,XY DSDs with normal testicular development referred to the Children's Medical Center from all over the country to eventually culminate in a reliable prenatal diagnosis protocol at this major referral centre giving service to a great number of families with consanguineous marriages.

Role of vitamin D and vitamin D receptor gene polymorphisms on residual beta cell function in children with type 1 diabetes mellitus.

BACKGROUND: After the onset of type 1 diabetes mellitus (T1DM), preservation of the residual ß-cell function can help good metabolic control. The aim of this study was to evaluate the effect of vitamin D and its receptor gene polymorphisms on residual ß-cells function. METHODS: One hundred and one children with T1DM (new cases) older than 5 years were selected. Vitamin D receptor (VDR) gene polymorphisms, vitamin D (VD), fasting and stimulated C-peptide (FCP and SCP) levels were measured within 1.5 and 4.5 month after the diagnosis of disease. Kruskal-Wallis and Mann-whitney U test were used for comparing the study groups. Generalized estimating equation (GEE) model was used for the estimation of association between VD and VDR gene polymorphisms with FCP and SCP after adjustment for comorbid variables. RESULTS: The most frequent genotypes and alleles in TaqI, FokI, BsmI and ApaI polymorphisms were TT (50%) and allele T (68.88%), FF (59.2%) and allele F (77.04%), Bb (41.8%) and allele b (61.73%), and Aa (53.1%) and allele A (63.29%) respectively. In children with higher VD levels, the C-peptide (CP) levels were elevated. Also we observed: the tt genotype associated with increasing SCP levels compared with TT genotype; the bb and Bb genotypes were associated with increasing both FCP and SCP in comparison to BB; and the aa and Aa genotypes were associated with decreasing FCP in comparison to the AA genotype. CONCLUSIONS: Sufficient levels of VD (more than 30 ng/ml) can preserve residual ß-cells and insulin secretion.

Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations.

BACKGROUND: Infantile Sandhoff disease (ISD) is a GM2 gangliosidosis that is classified as a lysosomal storage disorder. The most common symptoms of affected individuals at presentation are neurologic involvement. Here we report clinical course and demographic features in a case series of infantile Sandhoff disease. Enzymatically and some genetically proven cases of ISD were extracted from the Iranian Neurometabolic Registry (INMR) in Children's Medical Center, Iran, Tehran from December 2010 to December 2016. RESULT: Twenty five cases of infantile SD (13 female, 12 male) were included in this study. The age range of patients was 9-24 months with a mean of 15.8 months. The consanguinity rate of parents affected families was about 80%. The mean age of patients at disease onset was 6.4 months and the mean age at diagnosis was 14 months. Patients were diagnosed with a mean delay of 7.8 months. Eleven of patients died due to aspiration pneumonia and intractable seizure. The most common features at presentation (92%) were developmental delay or regression in speech and cognitive domains. Cherry red spots were detected in 17 patients (68%). Organomegaly was detected only in two patients. Enzyme studies showed marked reductions of both Hexosaminidase A and B in all patients. HEXB gene mutation studies performed in eight patients identified 6 different mutations, which five of them were novel. CONCLUSION: Infantile SD should be considered for each child presented with neurologic symptoms such as developmental delay and regression and cherry red spots in ophthalmic examination. Organomegaly is not a frequent clinical finding in infantile SD. Additionally; there are a genetic heterogenisity among Iranian patients.

The First Report of Relative Incidence of Inherited White Matter Disorders in an Asian Country Based on an Iranian Bioregistry System.

Childhood leukodystrophies are a fast-growing field of pediatric neurology practice. Epidemiologic studies on the incidence of these disorders in children show different results. This is the first report of childhood leukodystrophies incidence from Iran. The enrolled patients were recruited from the neurometabolic bioregistry system that was organized in 2010 in the Children's Medical Center, Tehran, Iran. Herein is reported the incidence rate of leukodystrophies in those patients who were residents of 2 big popular provinces near Iran's capital city Tehran, with an average child population of 2 988 800 children. Ninety cases of leukodystrophies from Tehran and Alborz provinces who were registered between 2010 and 2016 in the bioregistry system were enrolled in this study. The annual incidence of inherited white matter disorders was 3.01/100 000, the highest number compared with those found in other studies using similar methods throughout the world. One of the main cause of this higher incidence could be the higher number of consanguineous marriages in Iran.

Pericentric Inversion of Chromosome 9 in an Infant With Ambiguous Genitalia.

Pericentric inversion of Chromosome 9 is one of the most common chromosomal abnormalities, which could be associated with various manifestations in some cases. Herein, a patient is presented with ambiguous genitalia that karyotyping revealed pericentric inversion of Chromosome 9 (p12,q13). Pericentric inversion of Chromosome 9 could be considered in the list of differential diagnosis of those with ambiguous genitalia, while chromosomal karyotype and culture could be recommended in children with ambiguous genitalia.

Neurological and Vascular Manifestations of Ethylmalonic Encephalopathy.

Objective Ethylmalonic encephalopathy (EE) is a severe mitochondrial disease of early infancy clinically characterized by a combination of developmental delay, progressive pyramidal signs, and vascular lesions including petechial purpura, orthostatic acrocyanosis, and chronic hemorrhagic diarrhea. Biochemical hallmarks of the disease are persistently high level of lactate, and C4-C5-acylcarnitines in blood, markedly elevated urinary excretion of methylsuccinic and ethylmalonic (EMA) acids. Here we report two patients with EE as a 16-months-old male infant and a 2-yr-old boy referred to Pediatric Neurology Clinic in Children's Medical Center, Tehran-Iran that in one patient genetic analysis revealed a homozygous mutation of the ETHE1 gene in favor of ethylmalonic acidemia.

Early infantile presentation of 3-methylglutaconic aciduria type 1 with a novel mutation in AUH gene: A case report and literature review.

3-Methylglutaconic aciduria is a member of inborn errors of leucine metabolism pathway. 3-Methylglutaconic aciduria type I (MGA1) causes neurological problems which are present during infancy or childhood but the diagnosis may be delayed until adulthood. Here we report a 3years old patient with developmental delay from a relative parent's that his medical evaluations include analyses of urinary organic acid and blood acylcarnitine showed high level of 3-methylglutacoic acid, 3-hydroxyisovaleric acid and increased level of 3-hydroxyisovalerylcarnitine respectively. Further evaluation and genetic tests revealed a novel homozygous mutation of variant c.179del G (p.Gly60Valfs*12) in exon 1 of the AUH gene that was compatible with the diagnosis of MGA1. In segregation analysis of his family, both parents were heterozygous for the respective mutation, confirming obligate parental carrier status and segregation of the mutation.

Methylmalonic acidemia with emergency hypertension / Acidemia metilmalónica con hipertensión de emergencia

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