Endocrine, nutritional and metabolic diseases
Metabolic disorders
Autosomal recessive
11q22.3
Alpha-Methylacetoacetic Aciduria is a very rare disease. The age of onset is between 6-months and 24-months. Symptoms include severe metabolic acidosis and ketosis. Affected children experience episodes of vomiting, dehydration, difficulty breathing, extreme tiredness, and occasional seizures. These episodes may lead to coma. Death or neurologic complications can also occur.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 203750.1 | Lebanon | Male | Yes | Metabolic ketoacidosis; Episodic ketoaci... Metabolic ketoacidosis; Episodic ketoacidosis  | NM_000019.3:c.395C>G | Homozygous | Autosomal, Recessive | Zhang et al, 2004 | Patient of Armenian ... | |
| 203750.2 | United Arab Emirates | Unknown | Episodic ketoacidosis Episodic ketoacidosis | NM_000019.4:c.86_87dup | Homozygous | Autosomal, Recessive | Al-Jasmi at al. 2016 | |||
| 203750.G.1 | United Arab Emirates | Unknown | Episodic ketoacidosis Episodic ketoacidosis | NM_000019.4:c.86_87dup, NM_000019.4:c.854C>T | Autosomal, Recessive | Al-Shamsi et al. 2014 | 2 mutations detected... |
In a study on 119 neonates, Al-Riyami et al. (2012) detected 3-KTD Deficiency in two unrelated neonates of either sex. One of these two patients was born to consanguineous parents and the other had a family history of the condition.
In a study of beta-Ketothiolase (2-methylacetoacetyl-CoA thiolase) deficiency in Tunisia, Monastiri et al. (1999) suggested that this abnormality is unusually frequent in the population.