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COMBINED MALONIC AND METHYLMALONIC ACIDURIA (CHAMMA)

COMBINED MALONIC AND METHYLMALONIC ACIDURIA (CHAMMA)
614265
OMIM = Online Mendelian Inheritance of Men
289504
Acyl-CoA synthetase family member 3, mitochondrial
16q24.3
E71.1
rare
autosomal recesive
autosomal dominant
mutation in the ACSF3 gene
Laboratory findingsMalonylcarnitine (C3DC) inc (blood)
    Cholesterol n/d (plasma)
    D-Glucose dec (plasma)
    L-Carnitine n/i (dried blood spot (DB)
    L-Carnitine n/i (plasma)
    L-Lactic acid normal/inc (plasma)
    Malonic acid inc (urine)
    Methylmalonic acid inc (plasma)
    Methylmalonic acid inc (urine)
Symptomshypoglycemia
ketosis, ketoacidosis
    behavior, abnormal or bizarre, confusion
    cardiomyopathy
    developmental delay
    dystonia
    encephalopathy
    failure to thrive
    feeding difficulties, poor feeding
    headache (severe, recurrent or occipital, migraine)
    hypotonia
    liver involvement or dysfunction
    metabolic acidosis
    microcephaly (<2 SD for age)
    MRI, brain, abnormalities [-]
    oculogyric crisis
    onset, adolescent
    onset, adulthood
    onset, childhood
    onset, infancy
    opisthotonus
    psychomotor retardation
    seizures
    speech difficulties
    vomiting