Isolated methylmalonic acidemia with unusual presentation mimicking diabetic ketoacidosis
-
Prapai Dejkhamron
and
Duangrurdee Wattanasirichaigoon
Abstract
Background: Hyperglycemic ketoacidosis is an acute, life threatening condition requiring early etiologic recognition and management to prevent serious morbidity/mortality. The most common cause is diabetic ketoacidosis (DKA). Organic acidemias (OAs) are inheritable disorders caused by defects in protein metabolism resulting in acid accumulation. Patients with metabolic decompensation usually present with acidosis, with/without hypoglycemia. Hyperglycemia is a very rare manifestation. At least 16 cases of OAs presenting with hyperglycemia have been reported. Six of the 16 were diagnosed with isolated methylmalonic academia (MMA) and three of the six passed away from late diagnosis.
Case description: We describe a 2-year-old Thai girl who presented with hyperglycemia, acidosis and ketosis. She has underlying delayed development, seizures, optic atrophy and poor growth. An initial diagnosis of DKA was made and standard treatment was started. After 4 h of treatment, the patient partially responded to treatment; blood sugar decreased but acidosis and ketonemia persisted. HbA1c was normal. Investigations to rule out OAs were performed. Markedly elevated urinary methylmalonic acid consistent with MMA was observed. Molecular and enzyme analyses confirmed the diagnosis with isolated MMA. Specific treatment for MMA including protein restriction, high caloric fluid, carnitine and vitamin B12 was promptly started. Clinical improvement was seen 4 days after initiating specific treatment.
Conclusions: Inherited metabolic disorders should be included in differential diagnosis in hyperglycemia ketoacidosis patients who respond poorly to standard DKA treatment. Unusual findings, e.g. hyperammonemia, lactic acidosis, pancytopenia, abnormal basal ganglia in MRI or underlying delayed development may indicate underlying OAs. Determining the etiology of hyperglycemic ketoacidosis is important and can lead to good outcomes.
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©2016 by De Gruyter
Articles in the same Issue
- Frontmatter
- Review
- Role of nutrition in preventing insulin resistance in children
- Original Articles
- Reduced frequency and severity of ketoacidosis at diagnosis of childhood type 1 diabetes in Northwest Saudi Arabia
- Differences in parental involvement in the care of children and adolescents with type 1 diabetes mellitus on multiple daily insulin injections versus continuous subcutaneous insulin infusion
- Value of the intrarenal arterial resistivity indices and different renal biomarkers for early identification of diabetic nephropathy in type 1 diabetic patients
- Remission of congenital hyperinsulinism following conservative treatment: an exploratory study in patients with KATP channel mutations
- Relationship between visceral obesity and plasma fibrinogen in obese children
- Diagnostic approach in children with unusual symptoms of acquired hypothyroidism. When to look for pituitary hyperplasia?
- The shortened combined clonidine and arginine test for growth hormone deficiency is practical and specific: a diagnostic accuracy study
- Bone maturation along the spectrum from normal weight to obesity: a complex interplay of sex, growth factors and weight gain
- Outcomes analysis of radioactive iodine and total thyroidectomy for pediatric Graves’ disease
- Direct sequencing of FAH gene in Pakistani tyrosinemia type 1 families reveals a novel mutation
- Odontoiatric perspectives and osteonecrosis of the jaw as a possible adverse effect of bisphosphonates therapy in fibrous dysplasia and McCune-Albright syndrome
- The relation of urinary bisphenol A with kisspeptin in girls diagnosed with central precocious puberty and premature thelarche
- Pattern of teen menstruation among secondary school girls in south east Nigeria
- Should children with isolated premature adrenarche be routinely evaluated for non-classical congenital adrenal hyperplasia?
- Anxiety, depression and self-esteem levels in obese children: a case-control study
- Case Reports
- Transient congenital hypothyroidism caused by compound heterozygous mutations affecting the NADPH-oxidase domain of DUOX2
- Isolated methylmalonic acidemia with unusual presentation mimicking diabetic ketoacidosis
- A first case report of UDP-galactose-4′-epimerase deficiency in China: genotype and phenotype
- A novel mutation in the glutamate dehydrogenase (GLUD1) of a patient with congenital hyperinsulinism-hyperammonemia (HI/HA)
- Letter to the Editor
- Partial biotinidase deficiency: identification of a single novel mutation (p.H314R) in a Greek newborn
Articles in the same Issue
- Frontmatter
- Review
- Role of nutrition in preventing insulin resistance in children
- Original Articles
- Reduced frequency and severity of ketoacidosis at diagnosis of childhood type 1 diabetes in Northwest Saudi Arabia
- Differences in parental involvement in the care of children and adolescents with type 1 diabetes mellitus on multiple daily insulin injections versus continuous subcutaneous insulin infusion
- Value of the intrarenal arterial resistivity indices and different renal biomarkers for early identification of diabetic nephropathy in type 1 diabetic patients
- Remission of congenital hyperinsulinism following conservative treatment: an exploratory study in patients with KATP channel mutations
- Relationship between visceral obesity and plasma fibrinogen in obese children
- Diagnostic approach in children with unusual symptoms of acquired hypothyroidism. When to look for pituitary hyperplasia?
- The shortened combined clonidine and arginine test for growth hormone deficiency is practical and specific: a diagnostic accuracy study
- Bone maturation along the spectrum from normal weight to obesity: a complex interplay of sex, growth factors and weight gain
- Outcomes analysis of radioactive iodine and total thyroidectomy for pediatric Graves’ disease
- Direct sequencing of FAH gene in Pakistani tyrosinemia type 1 families reveals a novel mutation
- Odontoiatric perspectives and osteonecrosis of the jaw as a possible adverse effect of bisphosphonates therapy in fibrous dysplasia and McCune-Albright syndrome
- The relation of urinary bisphenol A with kisspeptin in girls diagnosed with central precocious puberty and premature thelarche
- Pattern of teen menstruation among secondary school girls in south east Nigeria
- Should children with isolated premature adrenarche be routinely evaluated for non-classical congenital adrenal hyperplasia?
- Anxiety, depression and self-esteem levels in obese children: a case-control study
- Case Reports
- Transient congenital hypothyroidism caused by compound heterozygous mutations affecting the NADPH-oxidase domain of DUOX2
- Isolated methylmalonic acidemia with unusual presentation mimicking diabetic ketoacidosis
- A first case report of UDP-galactose-4′-epimerase deficiency in China: genotype and phenotype
- A novel mutation in the glutamate dehydrogenase (GLUD1) of a patient with congenital hyperinsulinism-hyperammonemia (HI/HA)
- Letter to the Editor
- Partial biotinidase deficiency: identification of a single novel mutation (p.H314R) in a Greek newborn
