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Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency

MedGen UID:
344419
Concept ID:
C1855100
Disease or Syndrome
Synonyms: MCEE-Related Methylmalonic Acidemia; METHYLMALONIC ACIDURIA III; Methylmalonyl-CoA epimerase deficiency; METHYLMALONYL-CoA RACEMASE DEFICIENCY
SNOMED CT: Deficiency of methylmalonyl-CoA racemase (1293018007); Deficiency of methylmalonyl-CoA epimerase (1293018007); Deficiency of methylmalonyl-coenzyme A epimerase (1293018007); Deficiency of methylmalonyl-coenzyme A racemase (1293018007)
 
Gene (location): MCEE (2p13.3)
 
Monarch Initiative: MONDO:0009615
OMIM®: 251120
Orphanet: ORPHA308425

Authors:

Additional description

From MedlinePlus Genetics
Methylmalonic acidemia is a group of inherited disorders that prevent the body from breaking down proteins and fats (lipids) properly. The effects of methylmalonic acidemia, which usually appear in early infancy, vary from mild to life-threatening. Affected infants can experience vomiting, dehydration, weak muscle tone (hypotonia), developmental delays, excessive tiredness (lethargy), an enlarged liver (hepatomegaly), and failure to gain weight and grow at the expected rate (failure to thrive). Long-term complications can include feeding problems, intellectual disabilities, movement problems, chronic kidney disease, and inflammation of the pancreas (pancreatitis). People with methylmalonic acidemia can have frequent episodes of excess acid in the blood (metabolic acidosis) that cause serious health complications.Without treatment, this disorder can lead to coma and death in some cases.  https://medlineplus.gov/genetics/condition/methylmalonic-acidemia

Clinical features

From HPO
Ketonuria
MedGen UID:
56402
Concept ID:
C0162275
Finding
High levels of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the urine. Ketone bodies are insignificant in the blood and urine of normal individuals in the postprandial or overnight-fasted state.
Methylmalonic aciduria
MedGen UID:
343266
Concept ID:
C1855119
Disease or Syndrome
Increased concentration of methylmalonic acid in the urine.
Failure to thrive
MedGen UID:
746019
Concept ID:
C2315100
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Gastroesophageal reflux
MedGen UID:
1368658
Concept ID:
C4317146
Finding
A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.
Spasticity
MedGen UID:
7753
Concept ID:
C0026838
Sign or Symptom
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Motor delay
MedGen UID:
381392
Concept ID:
C1854301
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Dehydration
MedGen UID:
8273
Concept ID:
C0011175
Disease or Syndrome
A condition resulting from the excessive loss of water from the body. It is usually caused by severe diarrhea, vomiting or diaphoresis.
Metabolic acidosis
MedGen UID:
65117
Concept ID:
C0220981
Pathologic Function
Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause.
Hyperhomocystinemia
MedGen UID:
812677
Concept ID:
C3806347
Finding
An increased concentration of homocystine in the blood.
Elevated circulating palmitoleylcarnitine concentration
MedGen UID:
1624739
Concept ID:
C4531053
Finding
An elevated level of propionylcarnitine in the circulation. Propionylcarnitine is present in high abundance in the urine of patients with Methylmalonyl-CoA mutase (MUT) deficiency.

Recent clinical studies

Diagnosis

Yazıcı H, Canda E, Onay H, Uçar SK, Habif S, Çoker M
Turk J Pediatr 2022;64(5):946-950. doi: 10.24953/turkjped.2021.245. PMID: 36305448

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